NM_000020.3(ACVRL1):c.1414T>C (p.Trp472Arg) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 22, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002391672.2
Allele description [Variation Report for NM_000020.3(ACVRL1):c.1414T>C (p.Trp472Arg)]
NM_000020.3(ACVRL1):c.1414T>C (p.Trp472Arg)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
MAP kinase-interacting serine/threonine-protein kinase 1 isoform 3 [Homo sapiens...
MAP kinase-interacting serine/threonine-protein kinase 1 isoform 3 [Homo sapiens]gi|1358101399|ref|NP_001129025.2|Protein
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Last Updated: May 1, 2024