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
- ClinVar Id was derived from the Allele Registry.
Variant: NM_001306179.1:c.811C>G
- Curation Version - 1.1
- Curation History
- JSON LD for Version 1.1
CA386966350
1338730 (ClinVar)
Gene: HNF1A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: 4113fa42-f346-409e-a460-08c9200229e2
Approved on: 2022-04-14
Published on: 2022-07-12
HGVS expressions
NM_001306179.1:c.811C>G
NC_000012.12:g.120994261C>G
CM000674.2:g.120994261C>G
NC_000012.11:g.121432064C>G
CM000674.1:g.121432064C>G
NC_000012.10:g.119916447C>G
NG_011731.2:g.20516C>G
ENST00000257555.11:c.811C>G
ENST00000257555.10:c.811C>G
ENST00000400024.6:c.811C>G
ENST00000402929.5:n.946C>G
ENST00000535955.5:n.43-3230C>G
ENST00000538626.2:n.191-3230C>G
ENST00000538646.5:c.624C>G
ENST00000540108.1:c.*251C>G
ENST00000541395.5:c.811C>G
ENST00000541924.5:c.713+555C>G
ENST00000543427.5:c.633+635C>G
ENST00000544413.2:c.811C>G
ENST00000544574.5:c.73-2356C>G
ENST00000560968.5:n.893+61C>G
ENST00000615446.4:c.-257-2001C>G
ENST00000617366.4:c.586+682C>G
NM_000545.5:c.811C>G
NM_000545.6:c.811C>G
NM_000545.8:c.811C>G
NM_001306179.2:c.811C>G
NM_000545.8(HNF1A):c.811C>G (p.Arg271Gly)
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Evidence submitted by expert panel
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