NM_001042702.5:c.113dup

HGVS Expressions

  • NG_012186.1:g.7087dup
  • NM_001042702.5:c.113dup
  • NP_001356841.1:p.Lys41fs

Associated Genes

Pejvakin
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Genomic Location

chr2:178453522

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

1299

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610220.1Morocco2PathogenicDeafness, Autosomal Recessive 59Ebermann et al. 2007 Brother of 613862.3.1 (II:2 in the pap...
613862.3.1Morocco2PathogenicDeafness, Autosomal Recessive 59Ebermann et al. 2007 Index patient (identified as II:5 in the...
613862.3.2Morocco2PathogenicDeafness, Autosomal Recessive 59Ebermann et al. 2007 Brother of 613862.3.1 (II:3 in the pap...
613862.3.3Morocco1Ebermann et al. 2007 Brother of 613862.3.1 (II:1 in the pap...
613862.3.4Morocco1Ebermann et al. 2007 Brother of 613862.3.1 (II:4 in the pap...
613862.3.5Morocco1Ebermann et al. 2007 Sister of 613862.3.1 (II:6 in the pape...
613862.3.6Morocco1Ebermann et al. 2007 Father of 613862.3.1 (I:1 in the paper...
613862.3.7Morocco1Ebermann et al. 2007 Mother of 613862.3.1 (I:2 in the paper...
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