The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computer assertion could be determined for this classification!
Variant: NM_175914.5(HNF4A):c.83C>T (p.Ala28Val)
- Curation Version - 1.1
- Curation History
- JSON LD for Version 1.1
CA9870161
994900 (ClinVar)
Gene: HNF4A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: 5f405974-6734-4fb1-b726-0bb2f29895a5
Approved on: 2024-04-06
Published on: 2024-04-06
HGVS expressions
NM_175914.5:c.83C>T
NM_175914.5(HNF4A):c.83C>T (p.Ala28Val)
NC_000020.11:g.44406091C>T
CM000682.2:g.44406091C>T
NC_000020.10:g.43034731C>T
CM000682.1:g.43034731C>T
NC_000020.9:g.42468145C>T
NG_009818.1:g.55291C>T
ENST00000316673.9:c.83C>T
ENST00000316099.10:c.149C>T
ENST00000619550.5:c.123C>T
ENST00000681977.1:c.125C>T
ENST00000682169.1:c.102C>T
ENST00000683148.1:n.125C>T
ENST00000683657.1:n.125C>T
ENST00000684046.1:c.125C>T
ENST00000684136.1:c.125C>T
ENST00000684476.1:c.106C>T
ENST00000316099.9:c.149C>T
ENST00000316099.8:c.149C>T
ENST00000316673.8:c.83C>T
ENST00000372920.1:c.240C>T
ENST00000415691.2:c.149C>T
ENST00000443598.6:c.149C>T
ENST00000457232.5:c.83C>T
ENST00000609262.5:c.74C>T
ENST00000609795.5:c.83C>T
ENST00000619550.4:c.74C>T
NM_000457.4:c.149C>T
NM_001030003.2:c.83C>T
NM_001030004.2:c.83C>T
NM_001258355.1:c.128C>T
NM_001287182.1:c.74C>T
NM_001287183.1:c.74C>T
NM_001287184.1:c.74C>T
NM_175914.4:c.83C>T
NM_178849.2:c.149C>T
NM_178850.2:c.149C>T
NM_001030003.3:c.83C>T
NM_001030004.3:c.83C>T
NM_001258355.2:c.128C>T
NM_001287182.2:c.74C>T
NM_001287184.2:c.74C>T
NM_178849.3:c.149C>T
NM_178850.3:c.149C>T
NM_000457.5:c.149C>T
NM_000457.6:c.149C>T
NM_001287183.2:c.74C>T
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Evidence submitted by expert panel
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