NM_000238.4(KCNH2):c.2604C>T (p.Ile868=) AND Long QT syndrome
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Dec 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001464518.8
Allele description [Variation Report for NM_000238.4(KCNH2):c.2604C>T (p.Ile868=)]
NM_000238.4(KCNH2):c.2604C>T (p.Ile868=)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
E3 ubiquitin-protein ligase DZIP3 isoform X5 [Homo sapiens]
E3 ubiquitin-protein ligase DZIP3 isoform X5 [Homo sapiens]gi|2462593927|ref|XP_054204472.1|Protein
-
PREDICTED: Homo sapiens maestro heat like repeat family member 6 (MROH6), transc...
PREDICTED: Homo sapiens maestro heat like repeat family member 6 (MROH6), transcript variant X17, mRNAgi|2462489934|ref|XM_054328771.1|Nucleotide
-
PREDICTED: Homo sapiens maestro heat like repeat family member 6 (MROH6), transc...
PREDICTED: Homo sapiens maestro heat like repeat family member 6 (MROH6), transcript variant X6, mRNAgi|2462620560|ref|XM_054360988.1|Nucleotide
-
maestro heat-like repeat-containing protein family member 6 isoform X13 [Homo sa...
maestro heat-like repeat-containing protein family member 6 isoform X13 [Homo sapiens]gi|2462489927|ref|XP_054184742.1|Protein
-
Fungal sp. 10 GP-2013 strain 8118 internal transcribed spacer 1, partial sequenc...
Fungal sp. 10 GP-2013 strain 8118 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequencegi|511425754|gb|JX982479.1|Nucleotide
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Last Updated: May 7, 2024