NM_000055.4:c.293A>G

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  2. NM_000055.4:c.293A>G

HGVS Expressions

  • NG_009031.1:g.11725A>G
  • NM_000055.4:c.293A>G
  • NP_000046.1:p.Asp98Gly
  • NC_000003.12:g.165830741T>C

Associated Genes

Butyrylcholinesterase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1799807

Clinvar

13215

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617936.1United Arab Emirates2PathogenicButyrylcholinesterase DeficiencyAl-Shamsi et al. 2014
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Contributors

  • Sayeeda Hana: 23.09.2021

Edit History

  • Sayeeda Hana: 23.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.