NM_001197104.1:c.3248G>A

HGVS Expressions

  • NG_027813.1:g.45407G>A
  • NM_001197104.1:c.3248G>A
  • NP_001184033.1:p.Arg1083Gln
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Genomic Location

chr11:118476896

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
147920.1Saudi Arabia1Likely PathogenicKabuki Syndrome 1Monies et al. 2017
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