NM_001139.3:c.944T>C

HGVS Expressions

  • NG_007099.2:g.13194T>C
  • NM_001139.3:c.944T>C
  • NP_001130.1:p.Leu315Pro
  • NC_000017.11:g.8079523A>G
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

930992

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
242100.2.1United Arab Emirates2PathogenicIchthyosiform Erythroderma, Congenital, Nonbullous, 1Bastaki et al. 2017
242100.2.2United Arab Emirates1PathogenicBastaki et al. 2017 Unaffected father of 242100.2.1
242100.2.3United Arab Emirates1PathogenicBastaki et al. 2017 Unaffected mother of 242100.2.1
© CAGS 2024. All rights reserved.