NM_144672.4:c.3079C>T

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HGVS Expressions

  • NG_012973.2:g.93918C>T
  • NM_144672.4:c.3079C>T
  • NP_653273.3:p.Arg1027Trp
  • NC_000016.10:g.21753050C>T

Associated Genes

Otoancorin
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

752661980

Clinvar

2596360

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604487.2United Arab Emirates1Uncertain SignificanceTlili et al. 2024 Patient has heterozygous variants in OTO...
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Contributors

  • Asha Deepthi: 04.09.2024

Edit History

  • Asha Deepthi: 04.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.