Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 39932 single nucleotide variant NM_018081.2(WRAP53):c.1192C>T (p.Arg398Trp) 281865548 MedGen:C3151442,OMIM:613988 17 7606088 7606088 C T 39932 single nucleotide variant NM_018081.2(WRAP53):c.1192C>T (p.Arg398Trp) 281865548 MedGen:C3151442,OMIM:613988 17 7702770 7702770 C T 39933 single nucleotide variant NM_018081.2(WRAP53):c.1126C>T (p.His376Tyr) 281865549 MedGen:C3151442,OMIM:613988 17 7605832 7605832 C T 39933 single nucleotide variant NM_018081.2(WRAP53):c.1126C>T (p.His376Tyr) 281865549 MedGen:C3151442,OMIM:613988 17 7702514 7702514 C T 49675 single nucleotide variant NM_018081.2(WRAP53):c.1303G>A (p.Gly435Arg) 281865550 MedGen:C3151442,OMIM:613988 17 7606345 7606345 G A 49675 single nucleotide variant NM_018081.2(WRAP53):c.1303G>A (p.Gly435Arg) 281865550 MedGen:C3151442,OMIM:613988 17 7703027 7703027 G A 49676 single nucleotide variant NM_018081.2(WRAP53):c.492C>A (p.Phe164Leu) 281865547 MedGen:C3151442,OMIM:613988 17 7592602 7592602 C A 49676 single nucleotide variant NM_018081.2(WRAP53):c.492C>A (p.Phe164Leu) 281865547 MedGen:C3151442,OMIM:613988 17 7689284 7689284 C A 106729 single nucleotide variant NM_018081.2(WRAP53):c.1510T>C (p.Ser504Pro) 483352746 MedGen:CN221809 17 7606667 7606667 T C 106729 single nucleotide variant NM_018081.2(WRAP53):c.1510T>C (p.Ser504Pro) 483352746 MedGen:CN221809 17 7703349 7703349 T C 256468 single nucleotide variant NM_018081.2(WRAP53):c.1223G>A (p.Gly408Asp) 116535684 MedGen:CN169374 17 7606119 7606119 G A 256468 single nucleotide variant NM_018081.2(WRAP53):c.1223G>A (p.Gly408Asp) 116535684 MedGen:CN169374 17 7702801 7702801 G A 256469 single nucleotide variant NM_018081.2(WRAP53):c.1308T>C (p.Ala436=) 34016213 MedGen:CN239315;MedGen:CN169374 17 7606350 7606350 T C 256469 single nucleotide variant NM_018081.2(WRAP53):c.1308T>C (p.Ala436=) 34016213 MedGen:CN239315;MedGen:CN169374 17 7703032 7703032 T C 256470 single nucleotide variant NM_018081.2(WRAP53):c.1359C>T (p.Pro453=) 35082161 MedGen:CN169374 17 7606401 7606401 C T 256470 single nucleotide variant NM_018081.2(WRAP53):c.1359C>T (p.Pro453=) 35082161 MedGen:CN169374 17 7703083 7703083 C T 256471 single nucleotide variant NM_018081.2(WRAP53):c.1482A>G (p.Glu494=) 140360074 MedGen:CN169374 17 7606639 7606639 A G 256471 single nucleotide variant NM_018081.2(WRAP53):c.1482A>G (p.Glu494=) 140360074 MedGen:CN169374 17 7703321 7703321 A G 256472 single nucleotide variant NM_018081.2(WRAP53):c.1565C>G (p.Ala522Gly) 7640 MedGen:CN239315;MedGen:CN169374 17 7703404 7703404 C G 256472 single nucleotide variant NM_018081.2(WRAP53):c.1565C>G (p.Ala522Gly) 7640 MedGen:CN239315;MedGen:CN169374 17 7606722 7606722 C G 256473 single nucleotide variant NM_018081.2(WRAP53):c.1641G>T (p.Leu547=) 146994329 MedGen:CN169374 17 7606798 7606798 G T 256473 single nucleotide variant NM_018081.2(WRAP53):c.1641G>T (p.Leu547=) 146994329 MedGen:CN169374 17 7703480 7703480 G T 330255 single nucleotide variant NM_018081.2(WRAP53):c.-255G>A 564330662 MedGen:CN239315 17 7688394 7688394 G A 330255 single nucleotide variant NM_018081.2(WRAP53):c.-255G>A 564330662 MedGen:CN239315 17 7591712 7591712 G A 330258 single nucleotide variant NM_018081.2(WRAP53):c.-138C>T 79199718 MedGen:CN239315 17 7688511 7688511 C T 330258 single nucleotide variant NM_018081.2(WRAP53):c.-138C>T 79199718 MedGen:CN239315 17 7591829 7591829 C T 330270 single nucleotide variant NM_018081.2(WRAP53):c.495C>T (p.Ser165=) 147817526 MedGen:CN239315 17 7689287 7689287 C T 330270 single nucleotide variant NM_018081.2(WRAP53):c.495C>T (p.Ser165=) 147817526 MedGen:CN239315 17 7592605 7592605 C T 340467 single nucleotide variant NM_001143990.1(WRAP53):c.-1-1206G>A 886053515 MedGen:CN239315 17 7687442 7687442 G A 340467 single nucleotide variant NM_001143990.1(WRAP53):c.-1-1206G>A 886053515 MedGen:CN239315 17 7590760 7590760 G A 340470 single nucleotide variant NM_018081.2(WRAP53):c.395C>A (p.Thr132Asn) 201340741 MedGen:CN239315 17 7689043 7689043 C A 340470 single nucleotide variant NM_018081.2(WRAP53):c.395C>A (p.Thr132Asn) 201340741 MedGen:CN239315 17 7592361 7592361 C A 346183 single nucleotide variant NM_001143990.1(WRAP53):c.-1-1198G>C 886053516 MedGen:CN239315 17 7687450 7687450 G C 346183 single nucleotide variant NM_001143990.1(WRAP53):c.-1-1198G>C 886053516 MedGen:CN239315 17 7590768 7590768 G C 346186 single nucleotide variant NM_018081.2(WRAP53):c.-86T>C 886053517 MedGen:CN239315 17 7688563 7688563 T C 346186 single nucleotide variant NM_018081.2(WRAP53):c.-86T>C 886053517 MedGen:CN239315 17 7591881 7591881 T C 346187 single nucleotide variant NM_018081.2(WRAP53):c.187G>A (p.Val63Met) 145760222 MedGen:CN239315 17 7688835 7688835 G A 346187 single nucleotide variant NM_018081.2(WRAP53):c.187G>A (p.Val63Met) 145760222 MedGen:CN239315 17 7592153 7592153 G A 346188 single nucleotide variant NM_018081.2(WRAP53):c.822+10G>A 372606750 MedGen:CN239315 17 7701559 7701559 G A 346188 single nucleotide variant NM_018081.2(WRAP53):c.822+10G>A 372606750 MedGen:CN239315 17 7604877 7604877 G A 346191 single nucleotide variant NM_018081.2(WRAP53):c.823-10C>T 117192546 MedGen:CN239315 17 7701647 7701647 C T 346191 single nucleotide variant NM_018081.2(WRAP53):c.823-10C>T 117192546 MedGen:CN239315 17 7604965 7604965 C T 346192 single nucleotide variant NM_018081.2(WRAP53):c.834G>A (p.Thr278=) 372166304 MedGen:CN239315 17 7701668 7701668 G A 346192 single nucleotide variant NM_018081.2(WRAP53):c.834G>A (p.Thr278=) 372166304 MedGen:CN239315 17 7604986 7604986 G A 346193 single nucleotide variant NM_018081.2(WRAP53):c.1448G>A (p.Arg483His) 199522817 MedGen:CN239315 17 7703287 7703287 G A 346193 single nucleotide variant NM_018081.2(WRAP53):c.1448G>A (p.Arg483His) 199522817 MedGen:CN239315 17 7606605 7606605 G A 347496 single nucleotide variant NM_018081.2(WRAP53):c.431+15C>T 17880740 MedGen:CN239315 17 7689094 7689094 C T 347496 single nucleotide variant NM_018081.2(WRAP53):c.431+15C>T 17880740 MedGen:CN239315 17 7592412 7592412 C T 347500 single nucleotide variant NM_018081.2(WRAP53):c.822+6G>A 770706285 MedGen:CN239315 17 7701555 7701555 G A 347500 single nucleotide variant NM_018081.2(WRAP53):c.822+6G>A 770706285 MedGen:CN239315 17 7604873 7604873 G A 347502 single nucleotide variant NM_018081.2(WRAP53):c.936C>T (p.Cys312=) 73248508 MedGen:CN239315 17 7701770 7701770 C T 347502 single nucleotide variant NM_018081.2(WRAP53):c.936C>T (p.Cys312=) 73248508 MedGen:CN239315 17 7605088 7605088 C T 347503 single nucleotide variant NM_018081.2(WRAP53):c.976G>A (p.Gly326Ser) 758704444 MedGen:CN239315 17 7702364 7702364 G A 347503 single nucleotide variant NM_018081.2(WRAP53):c.976G>A (p.Gly326Ser) 758704444 MedGen:CN239315 17 7605682 7605682 G A 347504 single nucleotide variant NM_018081.2(WRAP53):c.1035C>T (p.Tyr345=) 138784430 MedGen:CN239315 17 7702423 7702423 C T 347504 single nucleotide variant NM_018081.2(WRAP53):c.1035C>T (p.Tyr345=) 138784430 MedGen:CN239315 17 7605741 7605741 C T 347505 single nucleotide variant NM_018081.2(WRAP53):c.1269-13C>T 371953585 MedGen:CN239315 17 7702980 7702980 C T 347505 single nucleotide variant NM_018081.2(WRAP53):c.1269-13C>T 371953585 MedGen:CN239315 17 7606298 7606298 C T 347506 single nucleotide variant NM_018081.2(WRAP53):c.1403+6C>T 886053518 MedGen:CN239315 17 7703133 7703133 C T 347506 single nucleotide variant NM_018081.2(WRAP53):c.1403+6C>T 886053518 MedGen:CN239315 17 7606451 7606451 C T 353463 single nucleotide variant NM_018081.2(WRAP53):c.-314T>G 1057516027 MedGen:CN239315 17 7591653 7591653 T G 353463 single nucleotide variant NM_018081.2(WRAP53):c.-314T>G 1057516027 MedGen:CN239315 17 7688335 7688335 T G

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000141499.16 WRAP53 612661