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.737T>C
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA386965866
Gene: HNF1A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: 41c877ea-0688-46fb-be79-b249f5d3f8fe
Approved on: 2021-08-18
Published on: 2021-10-29
HGVS expressions
NM_001306179.2:c.737T>C
NC_000012.12:g.120994187T>C
CM000674.2:g.120994187T>C
NC_000012.11:g.121431990T>C
CM000674.1:g.121431990T>C
NC_000012.10:g.119916373T>C
NG_011731.2:g.20442T>C
ENST00000257555.11:c.737T>C
ENST00000257555.10:c.737T>C
ENST00000400024.6:c.737T>C
ENST00000402929.5:n.872T>C
ENST00000535955.5:n.43-3304T>C
ENST00000538626.2:n.191-3304T>C
ENST00000538646.5:c.550T>C
ENST00000540108.1:c.*177T>C
ENST00000541395.5:c.737T>C
ENST00000541924.5:c.713+481T>C
ENST00000543427.5:c.633+561T>C
ENST00000544413.2:c.737T>C
ENST00000544574.5:c.73-2430T>C
ENST00000560968.5:n.880T>C
ENST00000615446.4:c.-257-2075T>C
ENST00000617366.4:c.586+608T>C
NM_000545.5:c.737T>C
NM_000545.6:c.737T>C
NM_001306179.1:c.737T>C
NM_000545.8:c.737T>C
More
Evidence submitted by expert panel
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