NM_015404.4:c.1267C>T

HGVS Expressions

  • NG_016700.1:g.85974C>T
  • NM_015404.4:c.1267C>T
  • NP_056219.3:p.Arg423Ter
  • NC_000009.12:g.114424483G>A

Associated Genes

Whirlin
Back to search Result
Clinvar Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

45645

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600060.3.1United Arab Emirates1Ben-Salem et al. 2014
600060.3.2United Arab Emirates1Ben-Salem et al. 2014 Sibling of 600060.3.1
600060.3.4United Arab Emirates1Ben-Salem et al. 2014 First cousin once removed of 600060.3.1
600060.3.5United Arab Emirates1Ben-Salem et al. 2014 Sibling of 600060.3.4
600060.3.6United Arab Emirates1Ben-Salem et al. 2014 Sibling of 600060.3.4
© CAGS 2024. All rights reserved.