NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser) AND Primary pulmonary hypertension
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001376542.6
Allele description [Variation Report for NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser)]
NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser)
Condition(s)
- Name:
- Primary pulmonary hypertension (PPH1)
- Identifiers:
- MONDO: MONDO:0001999; MedGen: C0152171
-
2698750[uid] (1)
Taxonomy
-
Rattus norvegicus cytochrome b5 type A (Cyb5a), mRNA
Rattus norvegicus cytochrome b5 type A (Cyb5a), mRNAgi|1939160203|ref|NM_022245.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024