NM_000238.4(KCNH2):c.34A>G (p.Asn12Asp) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 6, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002050417.7
Allele description [Variation Report for NM_000238.4(KCNH2):c.34A>G (p.Asn12Asp)]
NM_000238.4(KCNH2):c.34A>G (p.Asn12Asp)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
POU domain, class 5, transcription factor 1 isoform 1 [Mus musculus]
POU domain, class 5, transcription factor 1 isoform 1 [Mus musculus]gi|125490392|ref|NP_038661.2|Protein
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Last Updated: Sep 29, 2024