Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000545.8(HNF1A):c.956-1G>C | HNF1A | Pathogenic | 12 | 121434064 | 121434064 | G | C | reviewed by expert panel | - |