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 computer assertion could be determined for this classification!
Variant: NM_001204.7(BMPR2):c.1424C>A (p.Ser475Ter)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA350344424
425943 (ClinVar)
Gene: BMPR2
Condition: pulmonary arterial hypertension
Inheritance Mode: Autosomal dominant inheritance
UUID: e689411a-9ea5-436f-ad52-c1b1bd9b8ae1
Approved on: 2024-05-03
Published on: 2024-05-03
HGVS expressions
NM_001204.7:c.1424C>A
NM_001204.7(BMPR2):c.1424C>A (p.Ser475Ter)
NC_000002.12:g.202552726C>A
CM000664.2:g.202552726C>A
NC_000002.11:g.203417449C>A
CM000664.1:g.203417449C>A
NC_000002.10:g.203125694C>A
NG_009363.1:g.181400C>A
ENST00000374580.10:c.1424C>A
ENST00000638587.1:c.1355C>A
ENST00000374574.2:c.1424C>A
ENST00000374580.8:c.1424C>A
NM_001204.6:c.1424C>A
Evidence submitted by expert panel
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