NM_004004.5:c.23C>T

HGVS Expressions

  • NG_008358.1:g.8417C>T
  • NM_004004.5:c.23C>T
  • NP_003995.2:p.Thr8Met
  • NC_000013.11:g.20189559G>A
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

379889

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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