NM_006892.4:c.2506G>A

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HGVS Expressions

  • NG_007290.1:g.50463G>A
  • NM_006892.4:c.2506G>A
  • NP_008823.1:p.Val836Met
  • NC_000020.11:g.32807847G>A

Associated Genes

DNA Methyltransferase 3B
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

866792483

Clinvar

1324289

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
242860.2Saudi Arabia2PathogenicImmunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1Kaya et al. 2011
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Contributors

  • Sayeeda Hana: 15.10.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Sayeeda Hana: 15.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.