NM_000238.4(KCNH2):c.1128+1G>A AND Long QT syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002542466.3
Allele description [Variation Report for NM_000238.4(KCNH2):c.1128+1G>A]
NM_000238.4(KCNH2):c.1128+1G>A
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
ACAT1 acetyl-CoA acetyltransferase 1 [Equus caballus]
ACAT1 acetyl-CoA acetyltransferase 1 [Equus caballus]Gene ID:100069718Gene
-
LINC02347 long intergenic non-protein coding RNA 2347 [Homo sapiens]
LINC02347 long intergenic non-protein coding RNA 2347 [Homo sapiens]Gene ID:100128554Gene
-
Conserved Domain Links for Protein (Select 902760528) (1)
Conserved Domains
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Last Updated: Sep 29, 2024