NM_002230.4(JUP):c.2149C>G (p.His717Asp) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002429977.2
Allele description [Variation Report for NM_002230.4(JUP):c.2149C>G (p.His717Asp)]
NM_002230.4(JUP):c.2149C>G (p.His717Asp)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
Assertion and evidence details
Last Updated: Oct 13, 2024