NM_001204.7(BMPR2):c.1039T>C (p.Cys347Arg) 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:
- RCV000488554.2
Allele description [Variation Report for NM_001204.7(BMPR2):c.1039T>C (p.Cys347Arg)]
NM_001204.7(BMPR2):c.1039T>C (p.Cys347Arg)
Condition(s)
-
MCM DNA helicase complex subunit MCM4 [Saccharomyces cerevisiae S288C]
MCM DNA helicase complex subunit MCM4 [Saccharomyces cerevisiae S288C]gi|6325276|ref|NP_015344.1|Protein
-
Homo sapiens hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase...
Homo sapiens hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit, mRNA (cDNA clone MGC:1728 IMAGE:2966432), complete cdsgi|34783002|gb|BC009235.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024