NM_033056.4:c.3717+1G>A

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  2. NM_033056.4:c.3717+1G>A

HGVS Expressions

  • NG_009191.3:g.1767542G>A
  • NM_033056.4:c.3717+1G>A

Associated Genes

Protocadherin 15
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Genomic Location

chr10:53866641

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

748706627

Clinvar

189083

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
602083.G.1Saudi Arabia4Likely PathogenicUsher Syndrome, Type IFPatel et al, 2018 2 members of a family
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Contributors

  • Sayeeda Hana: 07.07.2020

Edit History

  • Sayeeda Hana: 07.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.