NM_001032386.2:c.650G>A

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  2. NM_001032386.2:c.650G>A

HGVS Expressions

  • NG_008136.1:g.11781G>A
  • NM_001032386.2:c.650G>A
  • NP_001027558.1:p.Arg217Gln
  • NC_000012.12:g.56004039G>A

Associated Genes

Sulfite Oxidase
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121908007

Clinvar

3820

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272300.3United Arab Emirates2PathogenicSulfocysteinuriaAl-Shamsi et al. 2014
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Contributors

  • Sayeeda Hana: 06.08.2020

Edit History

  • Sayeeda Hana: 27.11.2022
  • Pratibha Nair: 23.08.2022
  • Sayeeda Hana: 06.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.