NM_001211.6:c.2441G>A

HGVS Expressions

  • NG_016338.1:g.56546G>A
  • NM_001211.6:c.2441G>A
  • NP_001202.5:p.Arg814His
  • NC_000015.10:g.40212554G>A
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

Clinvar

6764

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610329.1.2United Arab Emirates1Likely BenignAl-Shamsi et al. 2016 Sibling of 610329.1.1
© CAGS 2024. All rights reserved.