The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- 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_001114753.3(ENG):c.1586G>A (p.Arg529His)
CA321073
213212 (ClinVar)
Gene: ENG
Condition: telangiectasia, hereditary hemorrhagic, type 1
Inheritance Mode: Autosomal dominant inheritance
UUID: 59ed568c-8b34-41b1-baa2-f56a0adfb060
Approved on: 2024-09-11
Published on: 2024-09-19
HGVS expressions
NM_001114753.3:c.1586G>A
NM_001114753.3(ENG):c.1586G>A (p.Arg529His)
NC_000009.12:g.127818220C>T
CM000671.2:g.127818220C>T
NC_000009.11:g.130580499C>T
CM000671.1:g.130580499C>T
NC_000009.10:g.129620320C>T
NG_009551.1:g.41549G>A
ENST00000480266.6:c.1040G>A
ENST00000373203.9:c.1586G>A
ENST00000344849.4:c.1586G>A
ENST00000373203.8:c.1586G>A
ENST00000480266.5:c.1040G>A
NM_000118.3:c.1586G>A
NM_001114753.2:c.1586G>A
NM_001278138.1:c.1040G>A
NR_136302.1:n.1378-91C>T
NM_001278138.2:c.1040G>A
Evidence submitted by expert panel
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