NM_000238.4(KCNH2):c.790A>C (p.Ser264Arg) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002574251.3
Allele description [Variation Report for NM_000238.4(KCNH2):c.790A>C (p.Ser264Arg)]
NM_000238.4(KCNH2):c.790A>C (p.Ser264Arg)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
Mus musculus RIKEN cDNA 1110018G07 gene (1110018G07Rik), mRNA
Mus musculus RIKEN cDNA 1110018G07 gene (1110018G07Rik), mRNAgi|30017366|ref|NM_178065.1|Nucleotide
-
glucocerebrosidase [Paenibacillus sp. TS12]
glucocerebrosidase [Paenibacillus sp. TS12]gi|23491576|dbj|BAC16750.1|Protein
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Last Updated: Sep 29, 2024