NM_001287344.2:c.80G>A

HGVS Expressions

  • NG_009616.1:g.15918G>A
  • NM_001287344.2:c.80G>A
  • NP_001274273.1:p.Gly27Asp
  • NC_000023.11:g.101375307C>T
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Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
615617.1United Arab Emirates1Likely PathogenicBruton Agammaglobulinemia Tyrosine KinaseAl-Hammadi et al. 2020
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