NM_015120.4:c.10945G>T

HGVS Expressions

  • NG_011690.1:g.192067G>T
  • NM_015120.4:c.10945G>T
  • NP_055935.4:p.Glu3649Ter
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Genomic Location

chr2:73572819

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

39748

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204000.2.1Saudi Arabia2PathogenicLeber Congenital Amaurosis 1Wang et al. 2011
204000.2.2Saudi Arabia2PathogenicLeber Congenital Amaurosis 1Wang et al. 2011 Brother of 204000.2.1
204000.2.3Saudi Arabia2PathogenicLeber Congenital Amaurosis 1Wang et al. 2011 Brother of 204000.2.1
204000.2.4Saudi Arabia2PathogenicLeber Congenital Amaurosis 1Wang et al. 2011 Sister of 204000.2.1
204000.2.5Saudi Arabia2PathogenicLeber Congenital Amaurosis 1Wang et al. 2011 First-cousin of 204000.2.1
204000.2.6Saudi Arabia2PathogenicLeber Congenital Amaurosis 1Wang et al. 2011 First-cousin of 204000.2.1
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