Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_015702.3(MMADHC):c.154+1G>A | MMADHC | Pathogenic/Likely pathogenic | 2 | 150438640 | 150438640 | C | T | criteria provided, multiple submitters, no conflicts | - |