NM_000180.4:c.914del

  1. Home
  2. NM_000180.4:c.914del

HGVS Expressions

  • NG_009092.1:g.6375del
  • NM_000180.4:c.914del
  • NP_000171.1:p.His305ProfsTer90
  • NC_000017.11:g.8004044del

Associated Genes

Guanylate Cyclase 2D, Membrane
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1598144694

Clinvar

642720

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204000.G.4Saudi Arabia4+PathogenicLeber Congenital Amaurosis 1Patel et al. 2016 Family with unknown number of affected m...
Download Table

Contributors

  • Sayeeda Hana: 28.08.2024

Edit History

  • Sayeeda Hana: 28.08.2024
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.