Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) | HCFC1 | Pathogenic | X | 153229734 | 153229734 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA144900,OMIM:300019.0003 |