NM_002241.5(KCNJ10):c.*3919G>A AND Autosomal recessive nonsyndromic hearing loss 4
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001100891.4
Allele description [Variation Report for NM_002241.5(KCNJ10):c.*3919G>A]
NM_002241.5(KCNJ10):c.*3919G>A
Condition(s)
- Name:
- Autosomal recessive nonsyndromic hearing loss 4 (DFNB4)
- Synonyms:
- NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC; Nonsyndromic enlarged vestibular aqueduct (NSEVA); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010933; MedGen: C3538946; Orphanet: 90636; OMIM: 600791
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Human butyrylcholinesterase (BChEG1) gene, exon 1, and promoter sequence
Human butyrylcholinesterase (BChEG1) gene, exon 1, and promoter sequencegi|1311628|gb|M32388.1|HUMCHEBG1Nucleotide
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MULTISPECIES: S-ribosylhomocysteine lyase [Clostridium]
MULTISPECIES: S-ribosylhomocysteine lyase [Clostridium]gi|501425535|ref|WP_012450205.1|Protein
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PREDICTED: Camelus dromedarius host cell factor C1 regulator 1 (HCFC1R1), transc...
PREDICTED: Camelus dromedarius host cell factor C1 regulator 1 (HCFC1R1), transcript variant X1, mRNAgi|2716939656|ref|XM_031447609.2|Nucleotide
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PREDICTED: Mus musculus RIKEN cDNA 3110009E18 gene (3110009E18Rik), transcript v...
PREDICTED: Mus musculus RIKEN cDNA 3110009E18 gene (3110009E18Rik), transcript variant X2, mRNAgi|1907070435|ref|XM_006529893.4|Nucleotide
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PREDICTED: Mus musculus RIKEN cDNA 3110009E18 gene (3110009E18Rik), transcript v...
PREDICTED: Mus musculus RIKEN cDNA 3110009E18 gene (3110009E18Rik), transcript variant X4, mRNAgi|1907070437|ref|XM_017312453.3|Nucleotide
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Last Updated: Apr 6, 2024