The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- See Evidence submitted by expert panel for details.
Variant: NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr)
CA6831857
972814 (ClinVar)
Gene: HNF1A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: 08babbaa-0ebb-4af0-b035-ef9aa7c9f4ca
Approved on: 2021-12-30
Published on: 2021-12-30
HGVS expressions
NM_000545.8:c.871C>A
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr)
NC_000012.12:g.120994321C>A
CM000674.2:g.120994321C>A
NC_000012.11:g.121432124C>A
CM000674.1:g.121432124C>A
NC_000012.10:g.119916507C>A
NG_011731.2:g.20576C>A
ENST00000257555.11:c.871C>A
ENST00000257555.10:c.871C>A
ENST00000400024.6:c.871C>A
ENST00000402929.5:n.1006C>A
ENST00000535955.5:n.43-3170C>A
ENST00000538626.2:n.191-3170C>A
ENST00000538646.5:c.684C>A
ENST00000540108.1:c.*311C>A
ENST00000541395.5:c.871C>A
ENST00000541924.5:c.713+615C>A
ENST00000543427.5:c.633+695C>A
ENST00000544413.2:c.871C>A
ENST00000544574.5:c.73-2296C>A
ENST00000560968.5:n.893+121C>A
ENST00000615446.4:c.-257-1941C>A
ENST00000617366.4:c.586+742C>A
NM_000545.5:c.871C>A
NM_000545.6:c.871C>A
NM_001306179.1:c.871C>A
NM_001306179.2:c.871C>A
Evidence submitted by expert panel
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