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.724del (p.Val242fs)
CA658658870
447521 (ClinVar)
Gene: HNF4A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: 6ea12c74-5343-4b95-b65e-cd2df7187f02
Approved on: 2024-01-22
Published on: 2024-01-22
HGVS expressions
NM_175914.5:c.724del
NM_175914.5(HNF4A):c.724del (p.Val242fs)
NC_000020.11:g.44419774del
CM000682.2:g.44419774del
NC_000020.10:g.43048414del
CM000682.1:g.43048414del
NC_000020.9:g.42481828del
NG_009818.1:g.68974del
ENST00000316099.10:c.790del
ENST00000619550.5:c.764del
ENST00000683148.1:n.766del
ENST00000683657.1:n.1914del
ENST00000316099.9:c.790del
ENST00000316099.8:c.790del
ENST00000316673.8:c.724del
ENST00000372920.1:c.*557del
ENST00000415691.2:c.790del
ENST00000443598.6:c.790del
ENST00000457232.5:c.724del
ENST00000609795.5:c.724del
ENST00000619550.4:c.715del
NM_000457.4:c.790del
NM_001030003.2:c.724del
NM_001030004.2:c.724del
NM_001258355.1:c.769del
NM_001287182.1:c.715del
NM_001287183.1:c.715del
NM_001287184.1:c.715del
NM_175914.4:c.724del
NM_178849.2:c.790del
NM_178850.2:c.790del
NM_001030003.3:c.724del
NM_001030004.3:c.724del
NM_001258355.2:c.769del
NM_001287182.2:c.715del
NM_001287184.2:c.715del
NM_178849.3:c.790del
NM_178850.3:c.790del
NM_000457.5:c.790del
NM_000457.6:c.790del
NM_001287183.2:c.715del
Evidence submitted by expert panel
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