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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- No ClinVar Id was directly found from the curated document
Variant: NM_175914.5:c.125G>T
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA409103809
Gene: HNF4A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: 0bf65934-36bc-4790-a026-1f4c62c0ece8
Approved on: 2023-08-18
Published on: 2023-08-18
HGVS expressions
NM_175914.5:c.125G>T
NC_000020.11:g.44406133G>T
CM000682.2:g.44406133G>T
NC_000020.10:g.43034773G>T
CM000682.1:g.43034773G>T
NC_000020.9:g.42468187G>T
NG_009818.1:g.55333G>T
ENST00000316099.10:c.191G>T
ENST00000619550.5:n.165G>T
ENST00000681977.1:n.167G>T
ENST00000682169.1:n.144G>T
ENST00000683148.1:n.167G>T
ENST00000683657.1:n.167G>T
ENST00000684046.1:n.167G>T
ENST00000684136.1:n.167G>T
ENST00000684476.1:n.148G>T
ENST00000316099.9:c.191G>T
ENST00000316099.8:c.191G>T
ENST00000316673.8:c.125G>T
ENST00000372920.1:c.282G>T
ENST00000415691.2:c.191G>T
ENST00000443598.6:c.191G>T
ENST00000457232.5:c.125G>T
ENST00000609262.5:c.116G>T
ENST00000609795.5:c.125G>T
ENST00000619550.4:c.116G>T
NM_000457.4:c.191G>T
NM_001030003.2:c.125G>T
NM_001030004.2:c.125G>T
NM_001258355.1:c.170G>T
NM_001287182.1:c.116G>T
NM_001287183.1:c.116G>T
NM_001287184.1:c.116G>T
NM_175914.4:c.125G>T
NM_178849.2:c.191G>T
NM_178850.2:c.191G>T
NM_001030003.3:c.125G>T
NM_001030004.3:c.125G>T
NM_001258355.2:c.170G>T
NM_001287182.2:c.116G>T
NM_001287184.2:c.116G>T
NM_178849.3:c.191G>T
NM_178850.3:c.191G>T
NM_000457.5:c.191G>T
NM_000457.6:c.191G>T
NM_001287183.2:c.116G>T
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Evidence submitted by expert panel
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