Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_015506.3(MMACHC):c.1A>G (p.Met1Val) | MMACHC | Pathogenic | 1 | 45966005 | 45966005 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA827593 |