The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- No ClinVar Id was directly found from the curated document
- ClinVar Id was derived from the Allele Registry.
- 'cspec' property is found but contains no ID!
- See Evidence submitted by expert panel for details.
Variant: NM_001306179.2:c.526+1G>T
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA386960844
1746441 (ClinVar)
Gene: HNF1A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: 783da021-ae5d-40fd-8fc1-17103a557156
Approved on: 2023-12-02
Published on: 2023-12-02
HGVS expressions
NM_001306179.2:c.526+1G>T
NC_000012.12:g.120989033G>T
CM000674.2:g.120989033G>T
NC_000012.11:g.121426836G>T
CM000674.1:g.121426836G>T
NC_000012.10:g.119911219G>T
NG_011731.2:g.15288G>T
ENST00000257555.11:c.526+1G>T
ENST00000257555.10:c.526+1G>T
ENST00000400024.6:c.526+1G>T
ENST00000402929.5:n.661+1G>T
ENST00000535955.5:n.43-8458G>T
ENST00000538626.2:n.191-8458G>T
ENST00000538646.5:c.526+1G>T
ENST00000540108.1:c.327-4487G>T
ENST00000541395.5:c.526+1G>T
ENST00000541924.5:c.526+1G>T
ENST00000543427.5:c.526+1G>T
ENST00000544413.2:c.526+1G>T
ENST00000544574.5:c.73-7584G>T
ENST00000560968.5:c.669+1G>T
ENST00000615446.4:c.-257-7229G>T
ENST00000617366.4:c.526+1G>T
NM_000545.5:c.526+1G>T
NM_000545.6:c.526+1G>T
NM_001306179.1:c.526+1G>T
NM_000545.8:c.526+1G>T
NM_000545.8(HNF1A):c.526+1G>T
More
Evidence submitted by expert panel
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