NM_000238.4(KCNH2):c.982C>A (p.Arg328Ser) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004014984.2
Allele description [Variation Report for NM_000238.4(KCNH2):c.982C>A (p.Arg328Ser)]
NM_000238.4(KCNH2):c.982C>A (p.Arg328Ser)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 9,...
Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 9, non-coding RNAgi|1160595686|ref|NR_146187.1|Nucleotide
-
Gapdh-ps3 glyceraldehyde-3-phosphate dehydrogenase, pseudogene 3 [Mus musculus]
Gapdh-ps3 glyceraldehyde-3-phosphate dehydrogenase, pseudogene 3 [Mus musculus]Gene ID:108251Gene
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Last Updated: May 7, 2024