NM_012188.4:c.638G>C

HGVS Expressions

  • NG_012068.1:g.7200G>C
  • NM_012188.4:c.638G>C
  • NP_036320.2:p.Arg213Pro
  • NC_000005.10:g.170108112G>C

Associated Genes

Forkhead Box I1
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
267300.2.1Iraq2PathogenicRenal Tubular Acidosis, Distal, with Progressive Nerve DeafnessEnerbäck et al. 2018
267300.2.2Iraq1Enerbäck et al. 2018 Father of 267300.2.1
267300.2.4Iraq1Enerbäck et al. 2018 Mother of 267300.2.1
© CAGS 2024. All rights reserved.