NM_006204.4:c.2351G>T

  1. Home
  2. NM_006204.4:c.2351G>T

HGVS Expressions

  • NG_016752.1:g.55040G>t
  • NM_006204.4:c.2351G>T
  • NP_006195.3:p.Cys784Phe

Associated Genes

Phosphodiesterase 6C, cGMP-Specific, Cone, Alpha-Prime
Back to search Result
Genomic Location

chr10:93662627

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1451804778

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600163.1.1Lebanon1Likely PathogenicJalkh et al. 2019 Consanguineous partner. Has 2 kids who d...
600163.1.2Lebanon1Likely PathogenicJalkh et al. 2019 Consanguineous partner. Has 2 kids who d...
Download Table

Contributors

  • Pratibha Nair: 21.10.2020

Edit History

  • Pratibha Nair: 21.10.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.