NM_004004.5:c.229T>C

HGVS Expressions

  • NG_008358.1:g.8623T>C
  • NM_004004.5:c.229T>C
  • NP_003995.2:p.Trp77Arg
  • NC_000013.11:g.20189353A>G
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

17003

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220290.2Palestine2NAPathogenicDeafness, Autosomal Recessive 1AShahin et al. 2002
220290.G.7.2Palestine2NAPathogenicDeafness, Autosomal Recessive 1ACarrasquillo et al. 1997 Unknown number of patients in a group of...
220290.G.7.3Palestine1NAPathogenicDeafness, Autosomal Recessive 1ACarrasquillo et al. 1997 Unknown number of compound heterozygous ...
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