Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_002382.5(MAX):c.1A>G (p.Met1Val) | MAX | Pathogenic | 14 | 65569057 | 65569057 | T | C | criteria provided, single submitter | ClinGen:CA128636,OMIM:154950.0001 |