NM_000112.4:c.1721T>C

HGVS Expressions

  • NG_007147.2:g.22432T>C
  • NM_000112.4:c.1721T>C
  • NP_000103.2:p.Ile574Thr
  • NC_000005.10:g.149981314T>C
Back to search Result
Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

30832

Clinvar

196209

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614035.3.1Yemen2Likely BenignMohamed et al. 2019 Proband from "family YMN II" in the publ...
© CAGS 2025. All rights reserved.