NM_000441.2:c.2272_2273insCTT

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HGVS Expressions

  • NG_008489.1:g.56941_56942insCTT
  • NM_000441.2:c.2272_2273insCTT
  • NP_000432.1:p.Glu757_Leu758insSer
  • NC_000007.14:g.107712575_107712576insCTT

Associated Genes

Solute Carrier Family 26, Member 4
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Clinvar Clinical Significance

Uncertain Significance

Variant Type

Insertion

dbSNP

767671344

Clinvar

1174655

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605646.GUnited Arab Emirates1Chouchen et al. 2021 Heterozygous variants in at least 22 ind...
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Contributors

  • Sami Bizzari: 27.01.2022

Edit History

  • Pratibha Nair: 10.11.2022
  • Sami Bizzari: 27.01.2022
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© CAGS 2024. All rights reserved.