NM_000329.2:c.271C>T

HGVS Expressions

  • NG_008472.1:g.10102C>T
  • NM_000329.2:c.271C>T
  • NP_000320.1:p.Arg91Trp
  • NC_000001.11:g.68444858G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

13115

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204100.3United Arab Emirates2PathogenicLeber Congenital Amaurosis 2Saleh et al. 2021
204100.4Saudi Arabia2PathogenicLeber Congenital Amaurosis 2Patel et al. 2016
204100.6.1Tunisia2PathogenicLeber Congenital Amaurosis 2El Matri et al. 2006
204100.6.2Tunisia2PathogenicLeber Congenital Amaurosis 2El Matri et al. 2006 Brother of 204100.6.1
204100.6.3Tunisia2PathogenicLeber Congenital Amaurosis 2El Matri et al. 2006 Second cousin of 204100.6.1
204100.6.4Tunisia2PathogenicLeber Congenital Amaurosis 2El Matri et al. 2006 Second cousin of 204100.6.1; Brother of ...
204100.6.5Tunisia2PathogenicLeber Congenital Amaurosis 2El Matri et al. 2006 Second cousin of 204100.6.1; Brother of ...
204100.6.6Tunisia2PathogenicLeber Congenital Amaurosis 2El Matri et al. 2006 Second cousin of 204100.6.1; Sister of 2...
204100.7.1Tunisia2PathogenicLeber Congenital Amaurosis 2El Matri et al. 2006
204100.7.2Tunisia2PathogenicLeber Congenital Amaurosis 2El Matri et al. 2006 Brother of 204100.7.1
204100.7.3Tunisia2PathogenicLeber Congenital Amaurosis 2El Matri et al. 2006 Brother of 204100.7.1
204100.7.4Tunisia2PathogenicLeber Congenital Amaurosis 2El Matri et al. 2006 Sister of 204100.7.1
204100.7.5Tunisia2PathogenicLeber Congenital Amaurosis 2El Matri et al. 2006 Niece of 204100.7.1
204100.7.6Tunisia11El Matri et al. 2006 Mother of 204100.7.1
204100.8.1Saudi Arabia2PathogenicLeber Congenital Amaurosis 2Khan et al. 2014
204100.8.2Saudi Arabia2PathogenicLeber Congenital Amaurosis 2Khan et al. 2014 Brother of 204100.8.1
204100.10.1Saudi Arabia2PathogenicLeber Congenital Amaurosis 2Li et al. 2009
204100.10.2Saudi Arabia2PathogenicLeber Congenital Amaurosis 2Li et al. 2009 Brother of 204100.10.1
204100.10.3Saudi Arabia2PathogenicLeber Congenital Amaurosis 2Li et al. 2009 Sister of 204100.10.1
204100.6.G.1Tunisia11El Matri et al. 2006 11 unaffected relatives of 204100.6.1
204100.7.G.1Tunisia11El Matri et al. 2006 8 unaffected relatives of 204100.7.1
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