NM_001204.7(BMPR2):c.689_690del (p.Lys230fs) AND Pulmonary hypertension, primary, 1
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000488531.10
Allele description [Variation Report for NM_001204.7(BMPR2):c.689_690del (p.Lys230fs)]
NM_001204.7(BMPR2):c.689_690del (p.Lys230fs)
Condition(s)
-
alpha-1-antitrypsin precursor [Homo sapiens]
alpha-1-antitrypsin precursor [Homo sapiens]gi|189163542|ref|NP_001121179.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024