NM_138691.2:c.1939T>C

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  2. NM_138691.2:c.1939T>C

HGVS Expressions

  • NG_008213.1:g.304217T>C
  • NM_138691.2:c.1939T>C
  • NP_619636.2:p.Ser647Pro

Associated Genes

Transmembrane Channel-Like Protein 1
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Genomic Location

chr9:72821017

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

138527651

Clinvar

228408

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600974.2.1Morocco1PathogenicDeafness, Autosomal Recessive 7Brownstein et al. 2011 Proband
600974.2.2Morocco2PathogenicDeafness, Autosomal Recessive 7Brownstein et al. 2011 First cousin, once removed, of 600974.2....
600974.2.3Morocco2PathogenicDeafness, Autosomal Recessive 7Brownstein et al. 2011 Second cousin of 600974.2.1, Son of 6009...
600974.2.5Morocco1PathogenicBrownstein et al. 2011 Unaffected mother of 600974.2.1
600974.3.1Morocco2PathogenicDeafness, Autosomal Recessive 7Brownstein et al. 2011
600974.3.2Morocco2PathogenicDeafness, Autosomal Recessive 7Brownstein et al. 2011 Brother of 600974.3.1
600974.3.3Morocco1PathogenicBrownstein et al. 2011 Unaffected father of 600974.3.1
600974.3.4Morocco1PathogenicBrownstein et al. 2011 Unaffected mother of 600974.3.1
600974.4.1Morocco2PathogenicDeafness, Autosomal Recessive 7Brownstein et al. 2011
600974.4.2Morocco2PathogenicDeafness, Autosomal Recessive 7Brownstein et al. 2011 Sister of 600974.4.1
600974.4.3Morocco1PathogenicBrownstein et al. 2011 Unaffected father of 600974.4.1
600974.4.4Morocco1PathogenicBrownstein et al. 2011 Unaffected mother of 600974.4.1
600974.4.5Morocco1PathogenicBrownstein et al. 2011 Unaffected brother of 600974.4.1
600974.4.6Morocco1PathogenicBrownstein et al. 2011 Unaffected sister of 600974.4.1
600974.4.7Morocco1PathogenicBrownstein et al. 2011 Unaffected sister of 600974.4.1
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
600974.5.4Morocco1PathogenicBrownstein et al. 2011 Unaffected father of 600974.5.1
600974.5.6Morocco1PathogenicBrownstein et al. 2011 Unaffected brother of 600974.5.1
600974.6.1Morocco1PathogenicDeafness, Autosomal Recessive 7Brownstein et al. 2011
600974.6.2Morocco1PathogenicDeafness, Autosomal Recessive 7Brownstein et al. 2011 Brother of 600974.6.1
600974.6.3Morocco1PathogenicDeafness, Autosomal Recessive 7Brownstein et al. 2011 Sister of 600974.6.1
600974.6.5Morocco1PathogenicBrownstein et al. 2011 Unaffected mother of 600974.6.1
600974.6.6Morocco1PathogenicBrownstein et al. 2011 Unaffected sister of 600974.6.1
600974.6.7Morocco1PathogenicBrownstein et al. 2011 Unaffected sister of 600974.6.1
600974.6.8Morocco1PathogenicBrownstein et al. 2011 Unaffected brother of 600974.6.1
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Contributors

  • Sayeeda Hana: 11.09.2019

Edit History

  • Sayeeda Hana: 13.09.2019
  • Sayeeda Hana: 12.09.2019
  • Sayeeda Hana: 11.09.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.