NM_001204.7(BMPR2):c.1536del (p.Lys512fs) AND Primary pulmonary hypertension
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 25, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002235363.12
Allele description [Variation Report for NM_001204.7(BMPR2):c.1536del (p.Lys512fs)]
NM_001204.7(BMPR2):c.1536del (p.Lys512fs)
Condition(s)
- Name:
- Primary pulmonary hypertension (PPH1)
- Identifiers:
- MONDO: MONDO:0001999; MedGen: C0152171
-
formate dehydrogenase-N subunit alpha [Citrobacter farmeri]
formate dehydrogenase-N subunit alpha [Citrobacter farmeri]gi|1231142778|gnl|PRJNA397262|CI104 0|gb|AST81997.1|Protein
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Last Updated: Oct 13, 2024