NM_004004.5:c.457G>A

HGVS Expressions

  • NG_008358.1:g.8851G>A
  • NM_004004.5:c.457G>A
  • NP_003995.2:p.Val153Ile
  • NC_000013.11:g.20189125C>T
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Clinvar Clinical Significance

Benign, Likely Benign, Likely Pathogenic

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

44754

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220290.G.6.3Egypt2+NAUncertain SignificanceDeafness, Autosomal Recessive 1ASnoeckx et al. 2005 Unknown number of patients from 2 unrela...
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