NM_014249.4:c.932G>A

HGVS Expressions

  • NG_009113.2:g.8019G>A
  • NM_014249.4:c.932G>A
  • NP_055064.1:p.Arg311Gln
  • NC_000015.10:g.71813573G>A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

5532

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268100.1.1United Arab Emirates2PathogenicEnhanced S-Cone SyndromeChavala et al. 2005
268100.1.2United Arab Emirates2PathogenicEnhanced S-Cone SyndromeChavala et al. 2005 Sibling of 268100.1.1
268100.1.3United Arab Emirates1PathogenicChavala et al. 2005 Unaffected sibling of 268100.1.1
268100.6United Arab Emirates2Likely PathogenicEnhanced S-Cone SyndromeKhan. 2020
611131.1.1Saudi Arabia2PathogenicRetinitis Pigmentosa 37Patel et al, 2018
611131.2.1Palestine2PathogenicRetinitis Pigmentosa 37Bandah et al. 2009 The patient had a maternal aunt and 3 ma...
611131.3.1Morocco2PathogenicRetinitis Pigmentosa 37Bandah et al. 2009
268100.G.1Saudi Arabia6PathogenicEnhanced S-Cone SyndromePatel et al, 2018 3 members of a family
268100.G.2Saudi Arabia4PathogenicEnhanced S-Cone SyndromePatel et al, 2018 2 members of a family
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