NM_020638.3:c.367G>T

HGVS Expressions

  • NG_007087.1:g.13997G>T
  • NM_020638.3:c.367G>T
  • NP_065689.1:p.Gly123Trp
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Genomic Location

chr12:4370732

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

444062

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617993.1.01Lebanon2PathogenicTumoral Calcinosis, Hyperphosphatemic, Familial, 2 Chakhtoura et al, 2018 Proband
617993.1.02Lebanon1PathogenicChakhtoura et al, 2018 Unaffected father of 617993.1.01, brothe...
617993.1.03Lebanon1PathogenicChakhtoura et al, 2018 Unaffected mother of 617993.1.01, sister...
617993.1.04Lebanon1PathogenicChakhtoura et al, 2018 Unaffected sister of 617993.1.01
617993.1.05Lebanon1PathogenicChakhtoura et al, 2018 Unaffected brother of 617993.1.01
617993.1.06Lebanon2PathogenicTumoral Calcinosis, Hyperphosphatemic, Familial, 2 Chakhtoura et al, 2018 Double first cousin of 617993.1.01
617993.1.07Lebanon1PathogenicChakhtoura et al, 2018 Unaffected father of 617993.1.06, brothe...
617993.1.08Lebanon1PathogenicChakhtoura et al, 2018 Unaffected mother of 617993.1.06, sister...
617993.1.09Lebanon1PathogenicChakhtoura et al, 2018 Unaffected brother of 617993.1.06
617993.1.10Lebanon1PathogenicChakhtoura et al, 2018 Unaffected brother of 617993.1.06
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