Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000255.4(MMUT):c.2125-3C>G | MMUT | Pathogenic | 6 | 49399572 | 49399572 | G | C | criteria provided, single submitter | - |