NM_000335.5(SCN5A):c.113C>T (p.Thr38Ile) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002451432.2
Allele description [Variation Report for NM_000335.5(SCN5A):c.113C>T (p.Thr38Ile)]
NM_000335.5(SCN5A):c.113C>T (p.Thr38Ile)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
transmembrane protein 80 isoform 2 [Homo sapiens]
transmembrane protein 80 isoform 2 [Homo sapiens]gi|1859470316|ref|NP_001035928.3|Protein
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Last Updated: Oct 26, 2024