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.1720A>G (p.Ser574Gly)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA214285
36810 (ClinVar)
Gene: HNF1A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: e85181fe-8c0d-4882-8417-cd3f34b7ab9f
Approved on: 2022-04-18
Published on: 2022-04-18
HGVS expressions
NM_000545.8:c.1720A>G
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)
NC_000012.12:g.120999579A>G
CM000674.2:g.120999579A>G
NC_000012.11:g.121437382A>G
CM000674.1:g.121437382A>G
NC_000012.10:g.119921765A>G
ENST00000257555.11:c.1720A>G
ENST00000257555.10:c.1720A>G
ENST00000540108.1:c.*1160A>G
ENST00000541395.5:c.1813A>G
ENST00000543427.5:c.1183A>G
ENST00000544413.2:c.1741A>G
ENST00000560968.5:n.1537A>G
ENST00000615446.4:c.508A>G
ENST00000617366.4:c.*129A>G
NM_001306179.2:c.1741A>G
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Evidence submitted by expert panel
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