NM_001278293.3:c.362G>A

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  2. NM_001278293.3:c.362G>A

HGVS Expressions

  • NG_008119.2:g.28252G>A
  • NM_001278293.3:c.362G>A
  • NP_001265222.1:p.Arg121His
  • NC_000003.12:g.97788002G>A

Associated Genes

ADP-Ribosylation Factor-Like 6
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

765715798

Clinvar

191178

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613575.G.2Saudi Arabia4+Likely PathogenicRetinitis Pigmentosa 55Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 13.08.2024

Edit History

  • Sayeeda Hana: 13.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.