Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_003001.5(SDHC):c.3G>A (p.Met1Ile) | SDHC | Pathogenic | 1 | 161284198 | 161284198 | G | A | criteria provided, single submitter | ClinGen:CA016312,OMIM:602413.0001 |