The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- No ClinVar Id was directly found from the curated document
- See Evidence submitted by expert panel for details.
Variant: NM_001306179.2:c.427del
CA2023554331
Gene: HNF1A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: 70cd5b7b-7049-4fa0-a7f3-87f7ea86a6de
HGVS expressions
NM_001306179.2:c.427del
NC_000012.12:g.120988933del
CM000674.2:g.120988933del
NC_000012.11:g.121426736del
CM000674.1:g.121426736del
NC_000012.10:g.119911119del
NG_011731.2:g.15188del
ENST00000257555.11:c.427del
ENST00000257555.10:c.427del
ENST00000400024.6:c.427del
ENST00000402929.5:n.562del
ENST00000535955.5:n.43-8558del
ENST00000538626.2:n.191-8558del
ENST00000538646.5:c.427del
ENST00000540108.1:c.327-4587del
ENST00000541395.5:c.427del
ENST00000541924.5:c.427del
ENST00000543427.5:c.427del
ENST00000544413.2:c.427del
ENST00000544574.5:c.73-7684del
ENST00000560968.5:n.570del
ENST00000615446.4:c.-257-7329del
ENST00000617366.4:c.427del
NM_000545.5:c.427del
NM_000545.6:c.427del
NM_001306179.1:c.427del
NM_000545.8:c.427del
Evidence submitted by expert panel
Approved on: 2021-10-29
Published on: 2021-11-19
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