NM_000180.4:c.1978C>T

HGVS Expressions

  • NG_009092.1:g.14802C>T
  • NM_000180.4:c.1978C>T
  • NP_000171.1:p.Arg660Ter
  • NC_000017.11:g.8012471C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

98554

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204000.11Saudi Arabia2PathogenicLeber Congenital Amaurosis 1Khan et al. 2014
204000.13Saudi Arabia2PathogenicLeber Congenital Amaurosis 1Khan et al. 2014
204000.15.1Saudi Arabia2PathogenicLeber Congenital Amaurosis 1Li et al. 2009
204000.15.2Saudi Arabia2PathogenicLeber Congenital Amaurosis 1Li et al. 2009 Brother of 204000.15.1
204000.15.3Saudi Arabia2PathogenicLeber Congenital Amaurosis 1Li et al. 2009 Brother of 204000.15.1
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