Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000143.4(FH):c.1500G>A (p.Trp500Ter) | FH | Pathogenic | 1 | 241661161 | 241661161 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588287 |