NM_194248.2:c.4157C>T

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  2. NM_194248.2:c.4157C>T

HGVS Expressions

  • NG_009937.1:g.96264C>T
  • NM_194248.2:c.4157C>T
  • NP_919224.1:p.Thr1386Ile
  • NC_000002.12:g.26467435G>A

Associated Genes

Otoferlin
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

397515600

Clinvar

65801

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601071.3.1Palestine2PathogenicDeafness, Autosomal Recessive 9Shahin et al. 2010
601071.3.2Palestine2PathogenicDeafness, Autosomal Recessive 9Shahin et al. 2010 Sibling of 601071.3.1
601071.3.3Palestine2PathogenicDeafness, Autosomal Recessive 9Shahin et al. 2010 Sibling of 601071.3.1
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Contributors

  • Pratibha Nair: 25.02.2019

Edit History

  • Sami Bizzari: 12.09.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 25.02.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.