NM_018163.3:c.681G>A

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HGVS Expressions

  • NM_018163.3:c.681G>A
  • NP_060633.1:p.Tyr201_Ala227del
  • NC_000015.10:g.40774356C>T

Associated Genes

DNAJ/HSP40 Homolog, Subfamily C, Member 17
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

750145696

Clinvar

1440675

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268000.G.10Saudi Arabia4Likely PathogenicRetinitis PigmentosaPatel et al. 2016 2 siblings. While the variant is predict...
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Contributors

  • Sayeeda Hana: 02.09.2024

Edit History

  • Sayeeda Hana: 09.09.2024
  • Sayeeda Hana: 02.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.