NM_033100.4:c.338del

  1. Home
  2. NM_033100.4:c.338del

HGVS Expressions

  • NG_028034.1:g.8171del
  • NM_033100.4:c.338del
  • NP_149091.1:p.Gly113fs

Associated Genes

Cadherin-Related Family, Member 1
Back to search Result
Genomic Location

chr10:84197826

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

747425652

Clinvar

37292

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613660.2Palestine2PathogenicCone-Rod Dystrophy 15Patel et al, 2018
Download Table

Contributors

  • Sayeeda Hana: 11.06.2020

Edit History

  • Sayeeda Hana: 04.10.2020
  • Sayeeda Hana: 11.06.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.