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.5491C>T (p.Pro1831Ser) | HCFC1 | Likely pathogenic | X | 153216827 | 153216827 | G | A | criteria provided, single submitter | ClinGen:CA415104008 |