NM_000441.2:c.1334T>G

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HGVS Expressions

  • NG_008489.1:g.38839T>G
  • NM_000441.2:c.1334T>G
  • NP_000432.1:p.Leu445Trp

Associated Genes

Solute Carrier Family 26, Member 4
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Genomic Location

chr7:107694473

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

111033307

Clinvar

4829

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
274600.G.1Tunisia46PathogenicPendred SyndromeMasmoudi et al. 2000 Two large consanguineous families compri...
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Contributors

  • Sayeeda Hana: 11.08.2020

Edit History

  • Sayeeda Hana: 11.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.