NM_004004.5:c.95G>A

HGVS Expressions

  • NG_008358.1:g.8489G>A
  • NM_004004.5:c.95G>A
  • NP_003995.2:p.Arg32His
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Genomic Location

chr13:20189487

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

44766

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220290.9Lebanon1PathogenicDeafness, Autosomal Recessive 1AMustapha et al, 2001 Compound heterozygote
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