Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000545.8(HNF1A):c.864_897del (p.Pro290fs) | HNF1A | Pathogenic/Likely pathogenic | 12 | 121432116 | 121432149 | GGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT | G | criteria provided, multiple submitters, no conflicts | - |