NM_006892.3:c.2308A>G

HGVS Expressions

  • NG_007290.1:g.48831A>G
  • NM_006892.3:c.2308A>G
  • NP_008823.1:p.Lys770Glu
  • NC_000020.11:g.32806215A>G

Associated Genes

DNA Methyltransferase 3B
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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
242860.3Lebanon2Likely PathogenicImmunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1Brun et al. 2011
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