NM_016239.4:c.1454T>C

HGVS Expressions

  • NG_011634.2:g.16549T>C
  • NM_016239.4:c.1454T>C
  • NP_057323.3:p.Val485Ala

Associated Genes

Myosin XVA
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Genomic Location

chr17:18120254

Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

195313

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600316.1.1Lebanon2NALikely PathogenicDeafness, Autosomal Recessive 3Khalil et al, 2020
600316.1.2Lebanon2NALikely PathogenicDeafness, Autosomal Recessive 3Khalil et al, 2020
600316.1.3Lebanon; Saudi Arabia1NAKhalil et al, 2020 Father of the affected siblings
600316.1.4Lebanon; Saudi Arabia1NAKhalil et al, 2020 Mother of the affected siblings
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