NM_014249.4:c.119-2A>C

HGVS Expressions

  • NG_009113.2:g.5927A>C
  • NM_014249.4:c.119-2A>C
  • NP_055064.1:p.?
  • NC_000015.10:g.71811481A>C
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

2723341

Clinvar

191059

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268100.2.1Palestine2PathogenicEnhanced S-Cone SyndromeBandah et al. 2009 The patient had two affected sisters who...
268100.2.2Palestine1PathogenicBandah et al. 2009 Unaffected father of 268100.2.1
268100.3.1Palestine2PathogenicEnhanced S-Cone SyndromeBandah et al. 2009
268100.3.2Palestine2PathogenicEnhanced S-Cone SyndromeBandah et al. 2009 Sister of 268100.3.1
268100.3.3Palestine1PathogenicBandah et al. 2009 Unaffected father of 268100.3.1
268100.3.4Palestine1PathogenicBandah et al. 2009 Unaffected mother of 268100.3.1
268100.4.1Palestine2PathogenicEnhanced S-Cone SyndromeBandah et al. 2009
268100.4.2Palestine2PathogenicEnhanced S-Cone SyndromeBandah et al. 2009 Sister of 268100.4.1
268100.5.1Palestine2PathogenicEnhanced S-Cone SyndromeBandah et al. 2009
268100.5.2Palestine1PathogenicBandah et al. 2009 Unaffected brother of 268100.5.1
268100.5.3Palestine1PathogenicBandah et al. 2009 Unaffected father of 268100.5.1
268100.5.4Palestine1PathogenicBandah et al. 2009 Unaffected mother of 268100.5.1
268100.7United Arab Emirates2Likely PathogenicEnhanced S-Cone SyndromeKhan. 2020
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