NM_001278293.3:c.266C>T

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  2. NM_001278293.3:c.266C>T

HGVS Expressions

  • NG_008119.2:g.25216C>T
  • NM_001278293.3:c.266C>T
  • NP_001265222.1:p.Ala89Val

Associated Genes

ADP-Ribosylation Factor-Like 6
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Genomic Location

chr3:97784966

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

587777805

Clinvar

2045

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613575.G.1Saudi Arabia8PathogenicRetinitis Pigmentosa 55Aldahmesh et al. 2009 4 members of a family
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Contributors

  • Sayeeda Hana: 15.10.2020

Edit History

  • Pratibha Nair: 01.09.2021
  • Sayeeda Hana: 15.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.