NM_002230.4(JUP):c.159C>T (p.Tyr53=) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002402145.9
Allele description [Variation Report for NM_002230.4(JUP):c.159C>T (p.Tyr53=)]
NM_002230.4(JUP):c.159C>T (p.Tyr53=)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
chloride intracellular channel protein 6 isoform 1 [Homo sapiens]
chloride intracellular channel protein 6 isoform 1 [Homo sapiens]gi|948549898|ref|NP_001303938.1|Protein
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Last Updated: Oct 13, 2024