NM_012188.4:c.436C>T

HGVS Expressions

  • NG_012068.1:g.5481C>T
  • NM_012188.4:c.436C>T
  • NP_036320.2:p.Leu146Phe
  • NC_000005.10:g.170106393C>T

Associated Genes

Forkhead Box I1
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Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
267300.1.1United Arab Emirates2PathogenicRenal Tubular Acidosis, Distal, with Progressive Nerve DeafnessEnerbäck et al. 2018 Proband
267300.1.2United Arab Emirates2PathogenicRenal Tubular Acidosis, Distal, with Progressive Nerve DeafnessEnerbäck et al. 2018 Sister of 267300.1.1
267300.1.3United Arab Emirates1Enerbäck et al. 2018 Father of 267300.1.1
267300.1.4United Arab Emirates1Enerbäck et al. 2018 Mother of 267300.1.1
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