Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NG_011731.2:g.4741A>C | HNF1A | Likely pathogenic | 12 | 121416289 | 121416289 | A | C | reviewed by expert panel | OMIM:142410.0007 |