NM_012064.4:c.530A>G

HGVS Expressions

  • NG_021397.2:g.21019A>G
  • NM_012064.4:c.530A>G
  • NP_036196.1:p.Tyr177Cys
  • NC_000012.12:g.56453148T>C
Back to search Result
CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615274.1Saudi Arabia1PathogenicCataract 15, Multiple TypesPatel et al. 2017
© CAGS 2024. All rights reserved.