NM_000260.4:c.6487G>A

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  2. NM_000260.4:c.6487G>A

HGVS Expressions

  • NG_009086.2:g.90663G>A
  • NM_000260.4:c.6487G>A
  • NP_000251.3:p.Gly2163Ser

Associated Genes

Myosin VIIA
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Genomic Location

chr11:77213908

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

747656448

Clinvar

402267

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600060.1.1Palestine2PathogenicDeafness, Autosomal Recessive 2Shahin et al. 2010
600060.1.2Palestine2PathogenicDeafness, Autosomal Recessive 2Shahin et al. 2010 Sister of 600060.1.1
600060.1.3Palestine2PathogenicDeafness, Autosomal Recessive 2Shahin et al. 2010 Brother of 600060.1.1
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Contributors

  • Sayeeda Hana: 03.08.2020

Edit History

  • Sayeeda Hana: 03.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.