Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_004168.4(SDHA):c.1A>C (p.Met1Leu) | SDHA | Pathogenic | 5 | 218471 | 218471 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA119881,OMIM:600857.0003 |