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.408G>A (p.Ala136=)
CA9870243
586015 (ClinVar)
Gene: HNF4A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: 61513298-0b06-456b-8dda-59a86cab14d4
Approved on: 2023-01-12
Published on: 2023-01-12
HGVS expressions
NM_175914.5:c.408G>A
NM_175914.5(HNF4A):c.408G>A (p.Ala136=)
NC_000020.11:g.44413782G>A
CM000682.2:g.44413782G>A
NC_000020.10:g.43042422G>A
CM000682.1:g.43042422G>A
NC_000020.9:g.42475836G>A
NG_009818.1:g.62982G>A
ENST00000316099.10:c.474G>A
ENST00000619550.5:n.448G>A
ENST00000683148.1:n.450G>A
ENST00000683657.1:n.1598G>A
ENST00000316099.9:c.474G>A
ENST00000316099.8:c.474G>A
ENST00000316673.8:c.408G>A
ENST00000372920.1:c.*241G>A
ENST00000415691.2:c.474G>A
ENST00000443598.6:c.474G>A
ENST00000457232.5:c.408G>A
ENST00000609795.5:c.408G>A
ENST00000619550.4:c.399G>A
NM_000457.4:c.474G>A
NM_001030003.2:c.408G>A
NM_001030004.2:c.408G>A
NM_001258355.1:c.453G>A
NM_001287182.1:c.399G>A
NM_001287183.1:c.399G>A
NM_001287184.1:c.399G>A
NM_175914.4:c.408G>A
NM_178849.2:c.474G>A
NM_178850.2:c.474G>A
NM_001030003.3:c.408G>A
NM_001030004.3:c.408G>A
NM_001258355.2:c.453G>A
NM_001287182.2:c.399G>A
NM_001287184.2:c.399G>A
NM_178849.3:c.474G>A
NM_178850.3:c.474G>A
NM_000457.5:c.474G>A
NM_000457.6:c.474G>A
NM_001287183.2:c.399G>A
Evidence submitted by expert panel
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