NM_153676.4:c.121G>A

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HGVS Expressions

  • NG_011883.2:g.17891G>A
  • NM_153676.4:c.121G>A
  • NP_710142.1:p.Val41Met
  • NC_000011.10:g.17531526C>T

Associated Genes

USH1C Gene
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

780439529

Clinvar

929925

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600970.1United Arab Emirates1Uncertain SignificanceTlili et al. 2024 Patient has heterozygous variants in MYO...
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Contributors

  • Asha Deepthi: 02.09.2024

Edit History

  • Asha Deepthi: 03.09.2024
  • Asha Deepthi: 02.09.2024
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.