NM_000111.3:c.559G>T

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HGVS Expressions

  • NG_008046.1:g.17175G>T
  • NM_000111.3:c.559G>T
  • NP_000102.1:p.Gly187Ter
  • NC_000007.14:g.107791059C>A

Associated Genes

Solute Carrier Family 26, Member 3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

121913032

Clinvar

16759

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
214700.1United Arab Emirates2Likely PathogenicDiarrhea 1, Secretory Chloride, CongenitalBen-Rebeh et al. 2012
214700.G.1United Arab Emirates6PathogenicDiarrhea 1, Secretory Chloride, CongenitalAl-Shamsi et al. 2014 3 Emirati patients
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Contributors

  • Sayeeda Hana: 09.06.2021

Edit History

  • Sayeeda Hana: 23.09.2021
  • Sayeeda Hana: 09.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.