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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- Gene label mismatch: HNF1A vs undefined
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computed assertion could be determined for this classification!
Variant: NM_000545.8(HNF1A):c.1506_1507dup (p.Tyr503fs)
- Curation Version - 2.1
- Curation History
- JSON LD for Version 2.1
CA214270
36803 (ClinVar)
Gene: HNF1A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: 4057fb8c-5d08-4b7b-b259-9677c306fd09
Approved on: 2025-04-11
Published on: 2025-06-09
HGVS expressions
NM_000545.8:c.1506_1507dup
NM_000545.8(HNF1A):c.1506_1507dup (p.Tyr503fs)
NC_000012.12:g.120999272_120999273dup
CM000674.2:g.120999272_120999273dup
NC_000012.11:g.121437075_121437076dup
CM000674.1:g.121437075_121437076dup
NC_000012.10:g.119921458_119921459dup
NG_011731.2:g.25527_25528dup
ENST00000560968.6:c.*253_*254dup
ENST00000257555.11:c.1506_1507dup
ENST00000257555.10:c.1506_1507dup
ENST00000540108.1:c.*946_*947dup
ENST00000541395.5:c.1506_1507dup
ENST00000543427.5:c.969_970dup
ENST00000544413.2:c.1506_1507dup
ENST00000560968.5:c.1323_1324dup
ENST00000615446.4:c.294_295dup
ENST00000617366.4:c.623_624dup
NM_000545.5:c.1506_1507dup
NM_000545.6:c.1506_1507dup
NM_001306179.1:c.1506_1507dup
NM_001306179.2:c.1506_1507dup
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Evidence submitted by expert panel
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