NM_000238.4(KCNH2):c.988A>G (p.Ile330Val) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 3, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002012405.4
Allele description [Variation Report for NM_000238.4(KCNH2):c.988A>G (p.Ile330Val)]
NM_000238.4(KCNH2):c.988A>G (p.Ile330Val)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
Mus musculus vesicle-associated membrane protein, associated protein A (Vapa), m...
Mus musculus vesicle-associated membrane protein, associated protein A (Vapa), mRNAgi|31980695|ref|NM_013933.2|Nucleotide
-
cytochrome b5 isoform 2 [Homo sapiens]
cytochrome b5 isoform 2 [Homo sapiens]gi|4503183|ref|NP_001905.1|Protein
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Last Updated: Feb 20, 2024