NM_001204.7(BMPR2):c.2618G>A (p.Arg873Gln) AND Pulmonary arterial hypertension
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- May 3, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004551615.1
Allele description [Variation Report for NM_001204.7(BMPR2):c.2618G>A (p.Arg873Gln)]
NM_001204.7(BMPR2):c.2618G>A (p.Arg873Gln)
Condition(s)
- Name:
- Pulmonary arterial hypertension
- Identifiers:
- MONDO: MONDO:0015924; MeSH: D000081029; MedGen: C2973725; Orphanet: 182090; Human Phenotype Ontology: HP:0002092
-
MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 [Homo sapiens]
MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 [Homo sapiens]Gene ID:161357Gene
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See more...Assertion and evidence details
Last Updated: May 26, 2024