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_000545.8(HNF1A):c.1522G>A (p.Glu508Lys)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA289173
135665 (ClinVar)
Gene: HNF1A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: 0285392d-14d0-41c7-8b20-aabbdacbd554
Approved on: 2022-12-01
Published on: 2022-12-01
HGVS expressions
NM_000545.8:c.1522G>A
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys)
NC_000012.12:g.120999288G>A
CM000674.2:g.120999288G>A
NC_000012.11:g.121437091G>A
CM000674.1:g.121437091G>A
NC_000012.10:g.119921474G>A
NG_011731.2:g.25543G>A
ENST00000257555.11:c.1522G>A
ENST00000257555.10:c.1522G>A
ENST00000540108.1:c.*962G>A
ENST00000541395.5:c.1522G>A
ENST00000543427.5:c.985G>A
ENST00000544413.2:c.1522G>A
ENST00000560968.5:n.1339G>A
ENST00000615446.4:c.310G>A
ENST00000617366.4:c.639G>A
NM_000545.5:c.1522G>A
NM_000545.6:c.1522G>A
NM_001306179.1:c.1522G>A
NM_001306179.2:c.1522G>A
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Evidence submitted by expert panel
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