NM_000463.3:c.1073A>G

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  2. NM_000463.3:c.1073A>G

HGVS Expressions

  • NG_033238.1:g.12653A>G
  • NM_000463.3:c.1073A>G
  • NP_000454.1:p.Asn358Ser
  • NC_000002.12:g.233767925A>G

Associated Genes

Udp-Glycosyltransferase 1 Family, Polypeptide A1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

886044684

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606785.2United Arab Emirates2Likely PathogenicCrigler-Najjar Syndrome, Type IIAl-Shamsi et al. 2014
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Contributors

  • Sayeeda Hana: 23.09.2021

Edit History

  • Pratibha Nair: 11.01.2023
  • Pratibha Nair: 27.12.2022
  • Sayeeda Hana: 23.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.