NM_004004.5:c.438C>T

HGVS Expressions

  • NG_008358.1:g.8832C>T
  • NM_004004.5:c.438C>T
  • NP_003995.2:p.Phe146=
  • NC_000013.11:g.20189144G>A
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

1083190

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220290.G.9.4United Arab Emirates2Uncertain SignificanceDeafness, Autosomal Recessive 1ATlili et al. 2017 2 unrelated patients
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