NM_000218.3(KCNQ1):c.468_469del (p.Phe157fs) AND Long QT syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000631616.7
Allele description [Variation Report for NM_000218.3(KCNQ1):c.468_469del (p.Phe157fs)]
NM_000218.3(KCNQ1):c.468_469del (p.Phe157fs)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
Dictyostelium purpureum uncharacterized protein (DICPUDRAFT_41848), partial mRNA
Dictyostelium purpureum uncharacterized protein (DICPUDRAFT_41848), partial mRNAgi|330842721|ref|XM_003293273.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024