NM_021027.3:c.983A>G

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  2. NM_021027.3:c.983A>G

HGVS Expressions

  • NG_002601.2:g.182418A>G
  • NM_021027.3:c.983A>G
  • NP_066307.1:p.Gln328Arg
  • NC_000002.12:g.233767161A>G

Associated Genes

Udp-Glycosyltransferase 1 Family, Polypeptide A1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

72551348

Clinvar

12270

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606785.1United Arab Emirates2PathogenicCrigler-Najjar Syndrome, Type IIAli et al. 2011
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Contributors

  • Sayeeda Hana: 20.09.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Sayeeda Hana: 20.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.