NM_000238.4(KCNH2):c.1922C>T (p.Ser641Phe) AND Long QT syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 30, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000803218.7
Allele description [Variation Report for NM_000238.4(KCNH2):c.1922C>T (p.Ser641Phe)]
NM_000238.4(KCNH2):c.1922C>T (p.Ser641Phe)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
DNA-directed RNA polymerase I subunit RPA1 [Homo sapiens]
DNA-directed RNA polymerase I subunit RPA1 [Homo sapiens]gi|103471997|ref|NP_056240.2|Protein
-
Homo sapiens isolate R553 mitochondrion, complete genome
Homo sapiens isolate R553 mitochondrion, complete genomegi|373446348|gb|JQ245803.1|Nucleotide
-
Pentapodus setosus mitochondrion, complete genome
Pentapodus setosus mitochondrion, complete genomegi|2692936791|ref|NC_086456.1|Nucleotide
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Last Updated: Sep 29, 2024