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_001114753.3(ENG):c.-9G>A
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA5253269
414302 (ClinVar)
Gene: ENG
Condition: telangiectasia, hereditary hemorrhagic, type 1
Inheritance Mode: Autosomal dominant inheritance
UUID: 9d79f81b-6d66-4029-a41e-15502e010aaa
Approved on: 2024-03-15
Published on: 2024-03-15
HGVS expressions
NM_001114753.3:c.-9G>A
NM_001114753.3(ENG):c.-9G>A
NC_000009.12:g.127854364C>T
CM000671.2:g.127854364C>T
NC_000009.11:g.130616643C>T
CM000671.1:g.130616643C>T
NC_000009.10:g.129656464C>T
NG_009551.1:g.5405G>A
ENST00000373203.9:c.-9G>A
ENST00000344849.4:c.-9G>A
ENST00000373203.8:c.-9G>A
NM_000118.3:c.-9G>A
NM_001114753.2:c.-9G>A
Evidence submitted by expert panel
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