| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
|---|
| 259239 | single nucleotide variant | NM_017644.3(KLHL24):c.3G>A (p.Met1Ile) | 886037957 | MedGen:CN239946,OMIM:617294;MedGen:C0079299,OMIM:131900,Orphanet:ORPHA79399,SNOMED CT:C0079299 | 3 | 183368147 | 183368147 | G | A |
| 259239 | single nucleotide variant | NM_017644.3(KLHL24):c.3G>A (p.Met1Ile) | 886037957 | MedGen:CN239946,OMIM:617294;MedGen:C0079299,OMIM:131900,Orphanet:ORPHA79399,SNOMED CT:C0079299 | 3 | 183650359 | 183650359 | G | A |
| 259240 | single nucleotide variant | NM_017644.3(KLHL24):c.3G>T (p.Met1Ile) | 886037957 | MedGen:CN239946,OMIM:617294;MedGen:C0079299,OMIM:131900,Orphanet:ORPHA79399,SNOMED CT:C0079299 | 3 | 183368147 | 183368147 | G | T |
| 259240 | single nucleotide variant | NM_017644.3(KLHL24):c.3G>T (p.Met1Ile) | 886037957 | MedGen:CN239946,OMIM:617294;MedGen:C0079299,OMIM:131900,Orphanet:ORPHA79399,SNOMED CT:C0079299 | 3 | 183650359 | 183650359 | G | T |
| 259241 | single nucleotide variant | NM_017644.3(KLHL24):c.1A>G (p.Met1Val) | 886037956 | MedGen:CN239946,OMIM:617294;MedGen:C0079299,OMIM:131900,Orphanet:ORPHA79399,SNOMED CT:C0079299 | 3 | 183368145 | 183368145 | A | G |
| 259241 | single nucleotide variant | NM_017644.3(KLHL24):c.1A>G (p.Met1Val) | 886037956 | MedGen:CN239946,OMIM:617294;MedGen:C0079299,OMIM:131900,Orphanet:ORPHA79399,SNOMED CT:C0079299 | 3 | 183650357 | 183650357 | A | G |
| 354282 | single nucleotide variant | NM_017644.3(KLHL24):c.2T>C (p.Met1Thr) | 1057515580 | MedGen:CN239946,OMIM:617294;MedGen:C0079299,OMIM:131900,Orphanet:ORPHA79399,SNOMED CT:C0079299 | 3 | 183368146 | 183368146 | T | C |
| 354282 | single nucleotide variant | NM_017644.3(KLHL24):c.2T>C (p.Met1Thr) | 1057515580 | MedGen:CN239946,OMIM:617294;MedGen:C0079299,OMIM:131900,Orphanet:ORPHA79399,SNOMED CT:C0079299 | 3 | 183650358 | 183650358 | T | C |