NM_001098484.3:c.2230G>A

HGVS Expressions

  • NG_012653.1:g.349840G>A
  • NM_001098484.3:c.2230G>A
  • NP_001091954.1:p.Ala744Thr
  • NC_000004.12:g.71532125G>A
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604278.1.1United Arab Emirates2Likely PathogenicRenal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental RetardationAl-Shamsi et al. 2016
604278.1.2United Arab Emirates1Likely PathogenicAl-Shamsi et al. 2016 Mother of 604278.1.1
604278.1.3United Arab Emirates1Likely PathogenicAl-Shamsi et al. 2016 Father of 604278.1.1
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