LRSAM1
Disease associated variation - ClinVar
Allele IDTypeNameRS#dbSNPPhenotype IDsChromosomeStartStopReferenceAlternate
39816single nucleotide variantNM_138361.5(LRSAM1):c.1914G>A (p.Glu638=)387907032MedGen:C3280797,OMIM:614436,Orphanet:ORPHA3003199130263290130263290GA
39816single nucleotide variantNM_138361.5(LRSAM1):c.1914G>A (p.Glu638=)387907032MedGen:C3280797,OMIM:614436,Orphanet:ORPHA3003199127501011127501011GA
39817duplicationNM_138361.5(LRSAM1):c.2121_2122dupGC (p.Leu708Argfs)786200930MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:C0007959;MedGen:C3280797,OMIM:614436,Orphanet:ORPHA3003199130265127130265128GCGCGC
39817duplicationNM_138361.5(LRSAM1):c.2121_2122dupGC (p.Leu708Argfs)786200930MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:C0007959;MedGen:C3280797,OMIM:614436,Orphanet:ORPHA3003199127502848127502849GCGCGC
49853single nucleotide variantLRSAM1, IVS24AS, G-A, -1-1MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319na-1-1nana
165508single nucleotide variantNM_138361.5(LRSAM1):c.1046A>G (p.Gln349Arg)200595164MedGen:CN2218099130243464130243464AG
165508single nucleotide variantNM_138361.5(LRSAM1):c.1046A>G (p.Gln349Arg)200595164MedGen:CN2218099127481185127481185AG
200697single nucleotide variantNM_138361.5(LRSAM1):c.1913-1G>A756880678MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:C00079599130263288130263288GA
200697single nucleotide variantNM_138361.5(LRSAM1):c.1913-1G>A756880678MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:C00079599127501009127501009GA
205258single nucleotide variantNM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu)797044913MeSH:D030342,MedGen:C09501239130265126130265126CT
205258single nucleotide variantNM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu)797044913MeSH:D030342,MedGen:C09501239127502847127502847CT
231712single nucleotide variantNM_138361.5(LRSAM1):c.136T>C (p.Phe46Leu)546739304MedGen:CN1693749130217861130217861TC
231712single nucleotide variantNM_138361.5(LRSAM1):c.136T>C (p.Phe46Leu)546739304MedGen:CN1693749127455582127455582TC
231715single nucleotide variantNM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn)117692127MedGen:CN221809;MedGen:CN1693749127459018127459018GA
231715single nucleotide variantNM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn)117692127MedGen:CN221809;MedGen:CN1693749130221297130221297GA
231716single nucleotide variantNM_138361.5(LRSAM1):c.1877T>G (p.Val626Gly)574202204MedGen:CN1693749127497299127497299TG
231716single nucleotide variantNM_138361.5(LRSAM1):c.1877T>G (p.Val626Gly)574202204MedGen:CN1693749130259578130259578TG
231717deletionNM_138361.5(LRSAM1):c.2003_2015delTGGAGGTGCAGGC (p.Leu668Profs)876661208MedGen:CN2218099127501100127501112TGGAGGTGCAGGC-
231717deletionNM_138361.5(LRSAM1):c.2003_2015delTGGAGGTGCAGGC (p.Leu668Profs)876661208MedGen:CN2218099130263379130263391TGGAGGTGCAGGC-
231718single nucleotide variantNM_138361.5(LRSAM1):c.2011C>T (p.Gln671Ter)876661247MedGen:CN2218099127501108127501108CT
231718single nucleotide variantNM_138361.5(LRSAM1):c.2011C>T (p.Gln671Ter)876661247MedGen:CN2218099130263387130263387CT
231719single nucleotide variantNM_138361.5(LRSAM1):c.569G>A (p.Arg190Gln)142782210MedGen:CN239171;MedGen:CN1693749127467780127467780GA
231719single nucleotide variantNM_138361.5(LRSAM1):c.569G>A (p.Arg190Gln)142782210MedGen:CN239171;MedGen:CN1693749130230059130230059GA
240443single nucleotide variantNM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg)56380300MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319;MedGen:CN239171;MedGen:CN1693749130242179130242179AG
240443single nucleotide variantNM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg)56380300MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319;MedGen:CN239171;MedGen:CN1693749127479900127479900AG
240444single nucleotide variantNM_138361.5(LRSAM1):c.1279C>T (p.Arg427Ter)138226428MedGen:C3280797,OMIM:614436,Orphanet:ORPHA3003199130249974130249974CT
240444single nucleotide variantNM_138361.5(LRSAM1):c.1279C>T (p.Arg427Ter)138226428MedGen:C3280797,OMIM:614436,Orphanet:ORPHA3003199127487695127487695CT
240445single nucleotide variantNM_138361.5(LRSAM1):c.1830+6C>T75171318MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319;MedGen:CN2391719130258380130258380CT
240445single nucleotide variantNM_138361.5(LRSAM1):c.1830+6C>T75171318MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319;MedGen:CN2391719127496101127496101CT
240446single nucleotide variantNM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys)201284198MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319;MedGen:CN2391719130263306130263306GT
240446single nucleotide variantNM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys)201284198MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319;MedGen:CN2391719127501027127501027GT
244017single nucleotide variantNM_001005373.3(LRSAM1):c.2068T>C (p.Cys690Arg)879253755MedGen:C3280797,OMIM:614436,Orphanet:ORPHA3003199130265074130265074TC
244017single nucleotide variantNM_001005373.3(LRSAM1):c.2068T>C (p.Cys690Arg)879253755MedGen:C3280797,OMIM:614436,Orphanet:ORPHA3003199127502795127502795TC
244538single nucleotide variantNM_138361.5(LRSAM1):c.184G>A (p.Val62Ile)570688892MedGen:CN1693749130219604130219604GA
244538single nucleotide variantNM_138361.5(LRSAM1):c.184G>A (p.Val62Ile)570688892MedGen:CN1693749127457325127457325GA
244539single nucleotide variantNM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser)148059394MedGen:CN1693749130230076130230076GA
244539single nucleotide variantNM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser)148059394MedGen:CN1693749127467797127467797GA
244540single nucleotide variantNM_138361.5(LRSAM1):c.1514C>T (p.Ser505Leu)146106537MedGen:CN1693749130255091130255091CT
244540single nucleotide variantNM_138361.5(LRSAM1):c.1514C>T (p.Ser505Leu)146106537MedGen:CN1693749127492812127492812CT
244541single nucleotide variantNM_138361.5(LRSAM1):c.1870C>G (p.Arg624Gly)375938990MedGen:CN1693749130259571130259571CG
244541single nucleotide variantNM_138361.5(LRSAM1):c.1870C>G (p.Arg624Gly)375938990MedGen:CN1693749127497292127497292CG
244542single nucleotide variantNM_138361.5(LRSAM1):c.1939G>A (p.Val647Ile)879254326MedGen:CN1693749130263315130263315GA
244542single nucleotide variantNM_138361.5(LRSAM1):c.1939G>A (p.Val647Ile)879254326MedGen:CN1693749127501036127501036GA
244543single nucleotide variantNM_138361.5(LRSAM1):c.1975G>A (p.Val659Met)140786088MedGen:CN239171;MedGen:CN1693749127501072127501072GA
244543single nucleotide variantNM_138361.5(LRSAM1):c.1975G>A (p.Val659Met)140786088MedGen:CN239171;MedGen:CN1693749130263351130263351GA
244544single nucleotide variantNM_138361.5(LRSAM1):c.2050C>T (p.Gln684Ter)879254056MedGen:CN2218099130265056130265056CT
244544single nucleotide variantNM_138361.5(LRSAM1):c.2050C>T (p.Gln684Ter)879254056MedGen:CN2218099127502777127502777CT
263456single nucleotide variantNM_138361.5(LRSAM1):c.2081G>A (p.Cys694Tyr)886041051MedGen:C3280797,OMIM:614436,Orphanet:ORPHA3003199130265087130265087GA
263456single nucleotide variantNM_138361.5(LRSAM1):c.2081G>A (p.Cys694Tyr)886041051MedGen:C3280797,OMIM:614436,Orphanet:ORPHA3003199127502808127502808GA
272799single nucleotide variantNM_138361.5(LRSAM1):c.1781G>A (p.Arg594His)537838691MedGen:CN1693749130258325130258325GA
272799single nucleotide variantNM_138361.5(LRSAM1):c.1781G>A (p.Arg594His)537838691MedGen:CN1693749127496046127496046GA
306822single nucleotide variantNM_138361.5(LRSAM1):c.249C>T (p.Ile83=)2243906MedGen:CN2391719130219669130219669CT
306822single nucleotide variantNM_138361.5(LRSAM1):c.249C>T (p.Ile83=)2243906MedGen:CN2391719127457390127457390CT
306826single nucleotide variantNM_138361.5(LRSAM1):c.458G>A (p.Arg153His)368689811MedGen:CN2391719130224582130224582GA
306826single nucleotide variantNM_138361.5(LRSAM1):c.458G>A (p.Arg153His)368689811MedGen:CN2391719127462303127462303GA
306829single nucleotide variantNM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys)563259179MedGen:CN2391719130236145130236145GA
306829single nucleotide variantNM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys)563259179MedGen:CN2391719127473866127473866GA
306840single nucleotide variantNM_138361.5(LRSAM1):c.1199G>A (p.Arg400Gln)150344223MedGen:CN2391719127485775127485775GA
306833single nucleotide variantNM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp)1539567MedGen:CN2391719130242166130242166AG
306833single nucleotide variantNM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp)1539567MedGen:CN2391719127479887127479887AG
306839single nucleotide variantNM_138361.5(LRSAM1):c.1011C>T (p.Ser337=)886063456MedGen:CN2391719130242225130242225CT
306839single nucleotide variantNM_138361.5(LRSAM1):c.1011C>T (p.Ser337=)886063456MedGen:CN2391719127479946127479946CT
306840single nucleotide variantNM_138361.5(LRSAM1):c.1199G>A (p.Arg400Gln)150344223MedGen:CN2391719130248054130248054GA
310978single nucleotide variantNM_138361.5(LRSAM1):c.-401C>T886063450MedGen:CN2391719130213995130213995CT
310978single nucleotide variantNM_138361.5(LRSAM1):c.-401C>T886063450MedGen:CN2391719127451716127451716CT
310981single nucleotide variantNM_138361.5(LRSAM1):c.-309A>G886063453MedGen:CN2391719130214087130214087AG
310981single nucleotide variantNM_138361.5(LRSAM1):c.-309A>G886063453MedGen:CN2391719127451808127451808AG
310983single nucleotide variantNM_138361.5(LRSAM1):c.480C>T (p.Asn160=)147205387MedGen:CN2391719130224604130224604CT
310983single nucleotide variantNM_138361.5(LRSAM1):c.480C>T (p.Asn160=)147205387MedGen:CN2391719127462325127462325CT
310994single nucleotide variantNM_138361.5(LRSAM1):c.904-9C>T1539568MedGen:CN2391719130242109130242109CT
310994single nucleotide variantNM_138361.5(LRSAM1):c.904-9C>T1539568MedGen:CN2391719127479830127479830CT
310995single nucleotide variantNM_138361.5(LRSAM1):c.1504-5C>G377190920MedGen:CN2391719127492797127492797CG
310995single nucleotide variantNM_138361.5(LRSAM1):c.1504-5C>G377190920MedGen:CN2391719130255076130255076CG
310996single nucleotide variantNM_138361.5(LRSAM1):c.1912+5A>C2248822MedGen:CN2391719127497339127497339AC
310996single nucleotide variantNM_138361.5(LRSAM1):c.1912+5A>C2248822MedGen:CN2391719130259618130259618AC
311000single nucleotide variantNM_138361.5(LRSAM1):c.*57G>A549468112MedGen:CN2391719127502956127502956GA
311000single nucleotide variantNM_138361.5(LRSAM1):c.*57G>A549468112MedGen:CN2391719130265235130265235GA
311001deletionNM_138361.5(LRSAM1):c.*105delC886063458MedGen:CN2391719127503004127503004C-
311001deletionNM_138361.5(LRSAM1):c.*105delC886063458MedGen:CN2391719130265283130265283C-
311002single nucleotide variantNM_138361.5(LRSAM1):c.*238G>A886063459MedGen:CN2391719127503137127503137GA
311002single nucleotide variantNM_138361.5(LRSAM1):c.*238G>A886063459MedGen:CN2391719130265416130265416GA
311003single nucleotide variantNM_138361.5(LRSAM1):c.*350C>A764119919MedGen:CN2391719127503249127503249CA
311003single nucleotide variantNM_138361.5(LRSAM1):c.*350C>A764119919MedGen:CN2391719130265528130265528CA
311005single nucleotide variantNM_138361.5(LRSAM1):c.*590T>C139260397MedGen:CN2391719127503489127503489TC
311005single nucleotide variantNM_138361.5(LRSAM1):c.*590T>C139260397MedGen:CN2391719130265768130265768TC
311010single nucleotide variantNM_138361.5(LRSAM1):c.*597T>G751523580MedGen:CN2391719127503496127503496TG
311010single nucleotide variantNM_138361.5(LRSAM1):c.*597T>G751523580MedGen:CN2391719130265775130265775TG
316570deletionNM_138361.5(LRSAM1):c.-328_-326delTGT886063452MedGen:CN2391719130214068130214070TGT-
316570deletionNM_138361.5(LRSAM1):c.-328_-326delTGT886063452MedGen:CN2391719127451789127451791TGT-
316571single nucleotide variantNM_138361.5(LRSAM1):c.284C>T (p.Ala95Val)570248730MedGen:CN2391719130221313130221313CT
316571single nucleotide variantNM_138361.5(LRSAM1):c.284C>T (p.Ala95Val)570248730MedGen:CN2391719127459034127459034CT
316589single nucleotide variantNM_138361.5(LRSAM1):c.406+15G>T201808404MedGen:CN2391719130223551130223551GT
316589single nucleotide variantNM_138361.5(LRSAM1):c.406+15G>T201808404MedGen:CN2391719127461272127461272GT
316590single nucleotide variantNM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu)75690855MedGen:CN2391719130230038130230038CT
316590single nucleotide variantNM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu)75690855MedGen:CN2391719127467759127467759CT
316591single nucleotide variantNM_138361.5(LRSAM1):c.615C>G (p.Cys205Trp)886063455MedGen:CN2391719130230105130230105CG
316591single nucleotide variantNM_138361.5(LRSAM1):c.615C>G (p.Cys205Trp)886063455MedGen:CN2391719127467826127467826CG
316598single nucleotide variantNM_138361.5(LRSAM1):c.643C>A (p.Pro215Thr)765389102MedGen:CN2391719130236103130236103CA
316598single nucleotide variantNM_138361.5(LRSAM1):c.643C>A (p.Pro215Thr)765389102MedGen:CN2391719127473824127473824CA
316601single nucleotide variantNM_138361.5(LRSAM1):c.751-8C>G367823841MedGen:CN2391719130241205130241205CG
316601single nucleotide variantNM_138361.5(LRSAM1):c.751-8C>G367823841MedGen:CN2391719127478926127478926CG
316602single nucleotide variantNM_138361.5(LRSAM1):c.954C>T (p.Asn318=)200527839MedGen:CN2391719130242168130242168CT
316602single nucleotide variantNM_138361.5(LRSAM1):c.954C>T (p.Asn318=)200527839MedGen:CN2391719127479889127479889CT
316603single nucleotide variantNM_138361.5(LRSAM1):c.1044-9T>C59501881MedGen:CN2391719130243453130243453TC
316603single nucleotide variantNM_138361.5(LRSAM1):c.1044-9T>C59501881MedGen:CN2391719127481174127481174TC
316608single nucleotide variantNM_138361.5(LRSAM1):c.1073C>T (p.Ser358Leu)886063457MedGen:CN2391719130243491130243491CT
316608single nucleotide variantNM_138361.5(LRSAM1):c.1073C>T (p.Ser358Leu)886063457MedGen:CN2391719127481212127481212CT
316611single nucleotide variantNM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu)149540339MedGen:CN2391719127485801127485801CG
316611single nucleotide variantNM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu)149540339MedGen:CN2391719130248080130248080CG
316612single nucleotide variantNM_138361.5(LRSAM1):c.1368G>A (p.Ala456=)34426300MedGen:CN2391719127489464127489464GA
316612single nucleotide variantNM_138361.5(LRSAM1):c.1368G>A (p.Ala456=)34426300MedGen:CN2391719130251743130251743GA
316613single nucleotide variantNM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val)139344911MedGen:CN2391719127496037127496037CT
316613single nucleotide variantNM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val)139344911MedGen:CN2391719130258316130258316CT
316614single nucleotide variantNM_138361.5(LRSAM1):c.1860C>T (p.His620=)147734401MedGen:CN2391719127497282127497282CT
316614single nucleotide variantNM_138361.5(LRSAM1):c.1860C>T (p.His620=)147734401MedGen:CN2391719130259561130259561CT
316621single nucleotide variantNM_138361.5(LRSAM1):c.1950G>A (p.Thr650=)199887448MedGen:CN2391719127501047127501047GA
316621single nucleotide variantNM_138361.5(LRSAM1):c.1950G>A (p.Thr650=)199887448MedGen:CN2391719130263326130263326GA
316624single nucleotide variantNM_138361.5(LRSAM1):c.*501C>T886063460MedGen:CN2391719127503400127503400CT
316624single nucleotide variantNM_138361.5(LRSAM1):c.*501C>T886063460MedGen:CN2391719130265679130265679CT
316850single nucleotide variantNM_138361.5(LRSAM1):c.-575C>T116498902MedGen:CN2391719127451542127451542CT
316850single nucleotide variantNM_138361.5(LRSAM1):c.-575C>T116498902MedGen:CN2391719130213821130213821CT
316861single nucleotide variantNM_138361.5(LRSAM1):c.-458A>G760403428MedGen:CN2391719130213938130213938AG
316861single nucleotide variantNM_138361.5(LRSAM1):c.-458A>G760403428MedGen:CN2391719127451659127451659AG
316870single nucleotide variantNM_138361.5(LRSAM1):c.-338G>A886063451MedGen:CN2391719130214058130214058GA
316870single nucleotide variantNM_138361.5(LRSAM1):c.-338G>A886063451MedGen:CN2391719127451779127451779GA
316871single nucleotide variantNM_138361.5(LRSAM1):c.-78C>T886063454MedGen:CN2391719130214318130214318CT
316871single nucleotide variantNM_138361.5(LRSAM1):c.-78C>T886063454MedGen:CN2391719127452039127452039CT
316872single nucleotide variantNM_138361.5(LRSAM1):c.804C>T (p.Leu268=)771510127MedGen:CN2391719130241685130241685CT
316872single nucleotide variantNM_138361.5(LRSAM1):c.804C>T (p.Leu268=)771510127MedGen:CN2391719127479406127479406CT
316894single nucleotide variantNM_138361.5(LRSAM1):c.1746G>A (p.Ser582=)199997686MedGen:CN2391719127496011127496011GA
316894single nucleotide variantNM_138361.5(LRSAM1):c.1746G>A (p.Ser582=)199997686MedGen:CN2391719130258290130258290GA
316898single nucleotide variantNM_138361.5(LRSAM1):c.*588T>A886063461MedGen:CN2391719127503487127503487TA
316898single nucleotide variantNM_138361.5(LRSAM1):c.*588T>A886063461MedGen:CN2391719130265766130265766TA
361516single nucleotide variantNM_138361.5(LRSAM1):c.1026G>T (p.Leu342=)367599324MedGen:CN2218099127479961127479961GT
361516single nucleotide variantNM_138361.5(LRSAM1):c.1026G>T (p.Leu342=)367599324MedGen:CN2218099130242240130242240GT
361517single nucleotide variantNM_138361.5(LRSAM1):c.1027C>T (p.Leu343=)369353985MedGen:CN2218099127479962127479962CT
361517single nucleotide variantNM_138361.5(LRSAM1):c.1027C>T (p.Leu343=)369353985MedGen:CN2218099130242241130242241CT
Disease associated variation - GWASdb
ChrPosSNP ID(dbSNP 142)RefAltOri SNP IDP-valueDrug NameDrug AnnoGWAS TraitHPO IDDO IDAATypeTrait or Drug
9130215249rs2491101CTrs24911014.43E-04Multiple complex diseasesHPOID:0000118NACintronGWASdb_trait
9130224593rs150292099AGrs1502920990.00000035Prostate cancer (advanced)HPOID:0012125DOID:10283AmissenseGWASdb_trait
9130257191rs2798429GArs27984293.91E-04Multiple complex diseasesHPOID:0000118NACintronGWASdb_trait
Disease associated variation - OMIM
Ensembl_gene_ID Approved Gene Symbol MIM Number
ENSG00000148356.13 LRSAM1 610933