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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Variant: NM_175914.5(HNF4A):c.224+17dup
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA9870185
338425 (ClinVar)
Gene: HNF4A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: 59c51b04-a2a6-4eaf-a96f-36ca7443b1e2
Approved on: 2023-05-27
Published on: 2023-05-27
HGVS expressions
NM_175914.5:c.224+17dup
NM_175914.5(HNF4A):c.224+17dup
NC_000020.11:g.44406249dup
CM000682.2:g.44406249dup
NC_000020.10:g.43034889dup
CM000682.1:g.43034889dup
NC_000020.9:g.42468303dup
NG_009818.1:g.55449dup
ENST00000316099.10:c.290+17dup
ENST00000619550.5:n.264+17dup
ENST00000681977.1:n.266+17dup
ENST00000682169.1:n.243+17dup
ENST00000683148.1:n.266+17dup
ENST00000683657.1:n.283dup
ENST00000684046.1:n.266+17dup
ENST00000684136.1:n.266+17dup
ENST00000684476.1:n.247+17dup
ENST00000316099.9:c.290+17dup
ENST00000316099.8:c.290+17dup
ENST00000316673.8:c.224+17dup
ENST00000372920.1:c.*57+17dup
ENST00000415691.2:c.290+17dup
ENST00000443598.6:c.290+17dup
ENST00000457232.5:c.224+17dup
ENST00000609262.5:c.215+17dup
ENST00000609795.5:c.224+17dup
ENST00000619550.4:c.215+17dup
NM_000457.4:c.290+17dup
NM_001030003.2:c.224+17dup
NM_001030004.2:c.224+17dup
NM_001258355.1:c.269+17dup
NM_001287182.1:c.215+17dup
NM_001287183.1:c.215+17dup
NM_001287184.1:c.215+17dup
NM_175914.4:c.224+17dup
NM_178849.2:c.290+17dup
NM_178850.2:c.290+17dup
NM_001030003.3:c.224+17dup
NM_001030004.3:c.224+17dup
NM_001258355.2:c.269+17dup
NM_001287182.2:c.215+17dup
NM_001287184.2:c.215+17dup
NM_178849.3:c.290+17dup
NM_178850.3:c.290+17dup
NM_000457.5:c.290+17dup
NM_000457.6:c.290+17dup
NM_001287183.2:c.215+17dup
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Evidence submitted by expert panel
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