The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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- See Evidence submitted by expert panel for details.
Variant: NM_000545.6(HNF1A):c.801_802insGGG (p.Phe268_Ala269insGly)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA658658179
447502 (ClinVar)
Gene: HNF1A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: 4068d35c-0f31-4f22-a500-ee217fb31046
Approved on: 2022-01-21
Published on: 2022-01-21
HGVS expressions
NM_000545.6:c.801_802insGGG
NM_000545.6(HNF1A):c.801_802insGGG (p.Phe268_Ala269insGly)
NC_000012.12:g.120994251_120994252insGGG
CM000674.2:g.120994251_120994252insGGG
NC_000012.11:g.121432054_121432055insGGG
CM000674.1:g.121432054_121432055insGGG
NC_000012.10:g.119916437_119916438insGGG
NG_011731.2:g.20506_20507insGGG
ENST00000257555.11:c.801_802insGGG
ENST00000257555.10:c.801_802insGGG
ENST00000400024.6:c.801_802insGGG
ENST00000402929.5:n.936_937insGGG
ENST00000535955.5:n.43-3240_43-3239insGGG
ENST00000538626.2:n.191-3240_191-3239insGGG
ENST00000538646.5:c.614_615insGGG
ENST00000540108.1:c.*241_*242insGGG
ENST00000541395.5:c.801_802insGGG
ENST00000541924.5:c.713+545_713+546insGGG
ENST00000543427.5:c.633+625_633+626insGGG
ENST00000544413.2:c.801_802insGGG
ENST00000544574.5:c.73-2366_73-2365insGGG
ENST00000560968.5:n.893+51_893+52insGGG
ENST00000615446.4:c.-257-2011_-257-2010insGGG
ENST00000617366.4:c.586+672_586+673insGGG
NM_000545.5:c.801_802insGGG
NM_001306179.1:c.801_802insGGG
NM_000545.8:c.801_802insGGG
NM_001306179.2:c.801_802insGGG
NM_000545.8(HNF1A):c.801_802insGGG (p.Phe268_Ala269insGly)
More
Evidence submitted by expert panel
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