Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000545.8(HNF1A):c.1822_1829del (p.Ser608fs) | HNF1A | Likely pathogenic | 12 | 121438921 | 121438928 | GAGCCACCT | G | criteria provided, single submitter | ClinGen:CA658797970 |