NM_138691.2:c.1165C>T

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  2. NM_138691.2:c.1165C>T

HGVS Expressions

  • NG_008213.1:g.272458C>T
  • NM_138691.2:c.1165C>T
  • NP_619636.2:p.Arg389Ter

Associated Genes

Transmembrane Channel-Like Protein 1
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Genomic Location

chr9:72789258

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

151001642

Clinvar

47856

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600974.5.1Morocco1PathogenicDeafness, Autosomal Recessive 7Brownstein et al. 2011
600974.5.2Morocco1PathogenicDeafness, Autosomal Recessive 7Brownstein et al. 2011 Sister of 600974.5.1
600974.5.3Morocco1PathogenicDeafness, Autosomal Recessive 7Brownstein et al. 2011 Brother of 600974.5.1
600974.5.5Morocco1PathogenicBrownstein et al. 2011 Unaffected mother of 600974.5.1
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Contributors

  • Sayeeda Hana: 11.09.2019

Edit History

  • Sayeeda Hana: 13.09.2019
  • Sayeeda Hana: 11.09.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.