NM_001004334.3:c.1807C>T

HGVS Expressions

  • NG_032655.2:g.14795C>T
  • NM_001004334.3:c.1807C>T
  • NP_001004334.3:p.His603Tyr
Back to search Result
Genomic Location

chr17:38334016

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

31200

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614565.1.1Lebanon2PathogenicNight Blindness, Congenital Stationary, Type 1EAudo et al. 2012
614565.1.2Lebanon2PathogenicNight Blindness, Congenital Stationary, Type 1EAudo et al. 2012 Sibling of 614565.1.1
614565.1.3Lebanon2PathogenicNight Blindness, Congenital Stationary, Type 1EAudo et al. 2012 Sibling of 614565.1.1
614565.1.4Lebanon1PathogenicAudo et al. 2012 Mother of 614565.1.1
614565.1.5Lebanon1PathogenicNight Blindness, Congenital Stationary, Type 1EAudo et al. 2012 Father of 614565.1.1
© CAGS 2024. All rights reserved.