NM_000719.7(CACNA1C):c.5741T>G (p.Ile1914Ser) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000791607.7
Allele description [Variation Report for NM_000719.7(CACNA1C):c.5741T>G (p.Ile1914Ser)]
NM_000719.7(CACNA1C):c.5741T>G (p.Ile1914Ser)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
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Mutation, Repair and Recombination - Genomes
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Gm52403 predicted gene, 52403 [Mus musculus]
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Last Updated: Sep 29, 2024