NM_033337.3(CAV3):c.40G>A (p.Val14Ile) AND Long QT syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001084128.7
Allele description [Variation Report for NM_033337.3(CAV3):c.40G>A (p.Val14Ile)]
NM_033337.3(CAV3):c.40G>A (p.Val14Ile)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
Encephalomyelitis
EncephalomyelitisMedGen
-
C0014070[conceptid] (1)
MedGen
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Last Updated: Oct 20, 2024