Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Duplication | NM_000545.8(HNF1A):c.872dup (p.Gly292fs) | HNF1A | Pathogenic | 12 | 121432117 | 121432118 | G | GC | reviewed by expert panel | ClinGen:CA124453,OMIM:142410.0001 |