NM_201253.2:c.1772_1775del

HGVS Expressions

  • NG_008483.2:g.225139_225142del
  • NM_201253.2:c.1772_1775del
  • NP_957705.1:p.Cys591SerfsTer29
  • NC_000001.11:g.197421600_197421603del
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

867150

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600105.1.1Lebanon2PathogenicRetinitis Pigmentosa 12Jalkh et al, 2014
600105.1.2Lebanon2PathogenicRetinitis Pigmentosa 12Jalkh et al, 2014 Mother of 600105.1.1
600105.1.3Lebanon2PathogenicRetinitis Pigmentosa 12Jalkh et al, 2014 Maternal aunt of 600105.1.1
600105.1.4Lebanon1PathogenicRetinitis Pigmentosa 12Jalkh et al, 2014 Paternal uncle of 600105.1.1
613835.1.1Lebanon1PathogenicLeber Congenital Amaurosis 8Jalkh et al, 2014 Father of 600105.1.1
613835.1.2Lebanon1PathogenicLeber Congenital Amaurosis 8Jalkh et al, 2014 Paternal aunt of 600105.1.1
613835.1.3Lebanon1PathogenicLeber Congenital Amaurosis 8Jalkh et al, 2014 Paternal uncle of 600105.1.1
613835.1.4Lebanon1PathogenicLeber Congenital Amaurosis 8Jalkh et al, 2014 Paternal uncle of 600105.1.1
© CAGS 2024. All rights reserved.