NM_000238.4(KCNH2):c.2017_2020del (p.Tyr673fs) AND Long QT syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003049806.3
Allele description [Variation Report for NM_000238.4(KCNH2):c.2017_2020del (p.Tyr673fs)]
NM_000238.4(KCNH2):c.2017_2020del (p.Tyr673fs)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
Homo sapiens cargo selection protein (mannose 6 phosphate receptor binding prote...
Homo sapiens cargo selection protein (mannose 6 phosphate receptor binding protein) (TIP47), mRNAgi|5032182|ref|NM_005817.1|Nucleotide
-
Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein, mRNA (c...
Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein, mRNA (cDNA clone MGC:49819 IMAGE:4513184), complete cdsgi|26454827|gb|BC040844.1|Nucleotide
-
olfactory receptor family 8 subfamily S member 8 [Mus musculus]
olfactory receptor family 8 subfamily S member 8 [Mus musculus]gi|22129727|ref|NP_666392.1|Protein
-
AGENCOURT_7047061 NIH_MGC_99 Homo sapiens cDNA clone IMAGE:5813592 5', mRNA sequ...
AGENCOURT_7047061 NIH_MGC_99 Homo sapiens cDNA clone IMAGE:5813592 5', mRNA sequencegi|19817189|gnl|dbEST|11908137|gb|B 49.1|Nucleotide
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Last Updated: Sep 29, 2024