NM_016302.4:c.835+1G>A

  1. Home
  2. NM_016302.4:c.835+1G>A

HGVS Expressions

  • NG_016864.2:g.29972G>A
  • NM_016302.4:c.835+1G>A
  • NP_057386.2:p.?
  • NC_000003.12:g.3154746C>T

Associated Genes

Cereblon
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1226252969

Clinvar

984705

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607417.G.1Syria6PathogenicIntellectual Developmental Disorder, Autosomal Recessive 2Reuter et al. 2017 3 members of a family
Download Table

Contributors

  • Sayeeda Hana: 09.09.2024

Edit History

  • Sayeeda Hana: 16.09.2024
  • Sayeeda Hana: 09.09.2024
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.