NM_006892.4:c.2477G>A

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HGVS Expressions

  • NG_007290.1:g.50434G>A
  • NM_006892.4:c.2477G>A
  • NP_008823.1:p.Arg826His

Associated Genes

DNA Methyltransferase 3B
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Genomic Location

chr20:32807818

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

756972254

Clinvar

1026466

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
242860.1Lebanon2PathogenicImmunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1Mehawej et al, 2020 The patient had a similarly affected old...
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Contributors

  • Sayeeda Hana: 15.10.2020

Edit History

  • Sami Bizzari: 06.06.2021
  • Sayeeda Hana: 15.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.