NM_016239.4:c.6503T>G

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  2. NM_016239.4:c.6503T>G

HGVS Expressions

  • NG_011634.2:g.42396T>G
  • NM_016239.4:c.6503T>G
  • NP_057323.3:p.Leu2168Arg
  • NC_000017.11:g.18146101T>G

Associated Genes

Myosin XVA
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1567648703

Clinvar

623382

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600316.6United Arab Emirates2Likely PathogenicDeafness, Autosomal Recessive 3Tlili et al. 2024
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Contributors

  • Asha Deepthi: 29.08.2024

Edit History

  • Asha Deepthi: 29.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.