NM_016239.4:c.3988C>T

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  2. NM_016239.4:c.3988C>T

HGVS Expressions

  • NG_011634.1:g.23416C>T
  • NM_016239.4:c.3988C>T
  • NP_057323.3:p.Arg1330Cys

Associated Genes

Myosin XVA
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Genomic Location

chr17:18127121

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

374131038

Clinvar

889066

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600316.2Lebanon1Likely PathogenicDeafness, Autosomal Recessive 3Jalkh et al. 2019 Compound heterozygous
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Contributors

  • Pratibha Nair: 26.10.2020

Edit History

  • Sami Bizzari: 08.06.2021
  • Pratibha Nair: 26.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.