NM_000260.4:c.487G>A

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  2. NM_000260.4:c.487G>A

HGVS Expressions

  • NG_009086.2:g.33431G>A
  • NM_000260.4:c.487G>A
  • NP_000251.3:p.Gly163Arg

Associated Genes

Myosin VIIA
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Genomic Location

chr11:77156676

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1472566324

Clinvar

553070

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276900.1Saudi Arabia2PathogenicUsher Syndrome Type IPatel et al, 2018
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Contributors

  • Sayeeda Hana: 17.06.2020

Edit History

  • Sayeeda Hana: 17.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.