NM_000732.4:c.128G>A

HGVS Expressions

  • NG_009891.1:g.7224G>A
  • NM_000732.4:c.128G>A
  • NP_000723.1:p.Trp43Ter
  • NC_000011.10:g.118340521C>T
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Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

643120

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
615617.1United Arab Emirates2Likely PathogenicImmunodeficiency 19Al-Hammadi et al. 2020
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