NM_007315.4:c.1799T>C

HGVS Expressions

  • NG_008294.1:g.40321T>C
  • NM_007315.4:c.1799T>C
  • NP_009330.1:p.Leu600Pro
  • NC_000002.12:g.190978930A>G
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

9045

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613796.2.1Saudi Arabia2PathogenicImmunodeficiency 31BLe Voyer et al. 2021; Dupuis et al. 2003
613796.2.2Saudi Arabia2PathogenicImmunodeficiency 31BLe Voyer et al. 2021 First cousin of 613796.2.1
613796.2.3Saudi Arabia2PathogenicImmunodeficiency 31BLe Voyer et al. 2021 First cousin of 613796.2.1, Twin sister ...
613796.2.4Saudi Arabia1Le Voyer et al. 2021; Dupuis et al. 2003 Father of 613796.2.1
613796.2.5Saudi Arabia1Le Voyer et al. 2021; Dupuis et al. 2003 Mother of 613796.2.1
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