NM_001042702.5:c.406C>T

HGVS Expressions

  • NG_012186.1:g.8091C>T
  • NM_001042702.5:c.406C>T
  • NP_001356841.1:p.Arg136Ter

Associated Genes

Pejvakin
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Genomic Location

chr2:178454526

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

560905

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610220.2.1Palestine2PathogenicDeafness, Autosomal Recessive 59Borck et al. 2012 The families of 610220.2.1, 610220.3.1 a...
610220.2.2Palestine2PathogenicDeafness, Autosomal Recessive 59Borck et al. 2012 Sister of 610220.2.1
610220.2.3Palestine1Borck et al. 2012 Father of 610220.2.1
610220.2.4Palestine1Borck et al. 2012 Mother of 610220.2.1
610220.3.1Palestine2PathogenicDeafness, Autosomal Recessive 59Borck et al. 2012 The families of 610220.2.1, 610220.3.1 a...
610220.3.2Palestine1Borck et al. 2012 Father of 610220.3.1
610220.3.3Palestine1Borck et al. 2012 Mother of 610220.3.1
610220.4.1Palestine2PathogenicDeafness, Autosomal Recessive 59Borck et al. 2012 The families of 610220.2.1, 610220.3.1 a...
610220.4.2Palestine2PathogenicDeafness, Autosomal Recessive 59Borck et al. 2012 Sister of 610220.4.1
610220.4.3Palestine2PathogenicDeafness, Autosomal Recessive 59Borck et al. 2012 Sister of 610220.4.1
610220.4.4Palestine2PathogenicDeafness, Autosomal Recessive 59Borck et al. 2012 Brother of 610220.4.1
610220.4.5Palestine2PathogenicDeafness, Autosomal Recessive 59Borck et al. 2012 Brother of 610220.4.1
610220.4.6Palestine1Borck et al. 2012 Father of 610220.4.1
610220.4.7Palestine1Borck et al. 2012 Mother of 610220.4.1
610220.5.1Palestine2PathogenicDeafness, Autosomal Recessive 59Shahin et al. 2010
610220.5.2Palestine2PathogenicDeafness, Autosomal Recessive 59Shahin et al. 2010 Brother of 610220.5.1
610220.5.3Palestine2PathogenicDeafness, Autosomal Recessive 59Shahin et al. 2010 First cousin of 610220.5.1
610220.5.4Palestine2PathogenicDeafness, Autosomal Recessive 59Shahin et al. 2010 First cousin of 610220.5.1, brother of 6...
610220.5.5Palestine1Shahin et al. 2010 Father of 610220.5.1
610220.5.6Palestine1Shahin et al. 2010 Mother of 610220.5.1
610220.5.7Palestine1Shahin et al. 2010 Father of 610220.5.3
610220.5.8Palestine1Shahin et al. 2010 Mother of 610220.5.3
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