NM_015404.4:c.2140C>T

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HGVS Expressions

  • NG_016700.1:g.104006C>T
  • NM_015404.4:c.2140C>T
  • NP_056219.3:p.Gln714Ter
  • NC_000009.12:g.114406451G>A

Associated Genes

Whirlin
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

3061951

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607084.1Saudi Arabia2Likely PathogenicDeafness, Autosomal Recessive 31Monies et al. 2017
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Contributors

  • Asha Deepthi: 01.10.2024

Edit History

  • Asha Deepthi: 01.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.