NM_000238.4(KCNH2):c.2647C>T (p.Arg883Trp) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002429829.10
Allele description [Variation Report for NM_000238.4(KCNH2):c.2647C>T (p.Arg883Trp)]
NM_000238.4(KCNH2):c.2647C>T (p.Arg883Trp)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
mitochondrial basic amino acids transporter isoform X1 [Piliocolobus tephroscele...
mitochondrial basic amino acids transporter isoform X1 [Piliocolobus tephrosceles]gi|1297619215|ref|XP_023061387.1|Protein
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Last Updated: Oct 13, 2024