NM_000218.3(KCNQ1):c.*875A>G AND Jervell and Lange-Nielsen syndrome 1
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000376159.6
Allele description [Variation Report for NM_000218.3(KCNQ1):c.*875A>G]
NM_000218.3(KCNQ1):c.*875A>G
Condition(s)
- Name:
- Jervell and Lange-Nielsen syndrome 1 (JLNS1)
- Synonyms:
- Deafness, congenital, and functional heart disease; Prolonged QT interval in EKG and sudden death; Cardioauditory syndrome of Jervell and Lange-Nielsen; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024540; MedGen: C4551509; Orphanet: 768; Orphanet: 90647; OMIM: 220400
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glutamate decarboxylase, putative [Aspergillus clavatus NRRL 1]
glutamate decarboxylase, putative [Aspergillus clavatus NRRL 1]gi|121705704|ref|XP_001271115.1|Protein
-
ParB-like nuclease domain protein [Streptomyces phage Sushi23]
ParB-like nuclease domain protein [Streptomyces phage Sushi23]gi|1227559919|gb|ASR76443.1|Protein
-
hypothetical protein SEA_TACHEZ_64 [Mycobacterium phage Tachez]
hypothetical protein SEA_TACHEZ_64 [Mycobacterium phage Tachez]gi|1233033637|gb|ASR87670.1|Protein
-
putative WHSC1 protein [Homo sapiens]
putative WHSC1 protein [Homo sapiens]gi|4521955|gb|AAD21771.1|Protein
-
Rattus norvegicus aldehyde dehydrogenase (ALDH) mRNA, complete cds
Rattus norvegicus aldehyde dehydrogenase (ALDH) mRNA, complete cdsgi|2183216|gb|AF001898.1|Nucleotide
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Last Updated: Mar 5, 2024