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
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Clinical Significance

Likely Pathogenic

Variant Type


Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(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
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