NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr) AND Pulmonary arterial hypertension
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004547472.1
Allele description [Variation Report for NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr)]
NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr)
Condition(s)
- Name:
- Pulmonary arterial hypertension
- Identifiers:
- MONDO: MONDO:0015924; MeSH: D000081029; MedGen: C2973725; Orphanet: 182090; Human Phenotype Ontology: HP:0002092
-
JGI_CAAK11316.fwd NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7662023 5...
JGI_CAAK11316.fwd NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7662023 5', mRNA sequencegi|58497970|gnl|dbEST|27543115|gb|C 95.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024