NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp) AND Cardiovascular phenotype
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 29, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002453375.3
Allele description [Variation Report for NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)]
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
WGS_Brachyspira_pilosicoli
WGS_Brachyspira_pilosicolibiosample
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See more...Assertion and evidence details
Last Updated: May 7, 2024