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.660_662delinsTCAA (p.Leu221fs)
CA213966
36356 (ClinVar)
Gene: HNF4A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: b0df1f17-5834-40c0-aa7b-36bdc16a1665
HGVS expressions
NM_175914.5:c.660_662delinsTCAA
NM_175914.5(HNF4A):c.660_662delinsTCAA (p.Leu221fs)
NC_000020.11:g.44418502_44418504delinsTCAA
CM000682.2:g.44418502_44418504delinsTCAA
NC_000020.10:g.43047142_43047144delinsTCAA
CM000682.1:g.43047142_43047144delinsTCAA
NC_000020.9:g.42480556_42480558delinsTCAA
NG_009818.1:g.67702_67704delinsTCAA
ENST00000316099.10:c.726_728delinsTCAA
ENST00000619550.5:n.700_702delinsTCAA
ENST00000683148.1:n.702_704delinsTCAA
ENST00000683657.1:n.1850_1852delinsTCAA
ENST00000316099.9:c.726_728delinsTCAA
ENST00000316099.8:c.726_728delinsTCAA
ENST00000316673.8:c.660_662delinsTCAA
ENST00000372920.1:c.*493_*495delinsTCAA
ENST00000415691.2:c.726_728delinsTCAA
ENST00000443598.6:c.726_728delinsTCAA
ENST00000457232.5:c.660_662delinsTCAA
ENST00000609795.5:c.660_662delinsTCAA
ENST00000619550.4:c.651_653delinsTCAA
NM_000457.4:c.726_728delinsTCAA
NM_001030003.2:c.660_662delinsTCAA
NM_001030004.2:c.660_662delinsTCAA
NM_001258355.1:c.705_707delinsTCAA
NM_001287182.1:c.651_653delinsTCAA
NM_001287183.1:c.651_653delinsTCAA
NM_001287184.1:c.651_653delinsTCAA
NM_175914.4:c.660_662delinsTCAA
NM_178849.2:c.726_728delinsTCAA
NM_178850.2:c.726_728delinsTCAA
NM_001030003.3:c.660_662delinsTCAA
NM_001030004.3:c.660_662delinsTCAA
NM_001258355.2:c.705_707delinsTCAA
NM_001287182.2:c.651_653delinsTCAA
NM_001287184.2:c.651_653delinsTCAA
NM_178849.3:c.726_728delinsTCAA
NM_178850.3:c.726_728delinsTCAA
NM_000457.5:c.726_728delinsTCAA
NM_000457.6:c.726_728delinsTCAA
NM_001287183.2:c.651_653delinsTCAA
Evidence submitted by expert panel
Approved on: 2023-05-27
Published on: 2023-05-27
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