NM_006269.2:c.4552A>T

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  2. NM_006269.2:c.4552A>T

HGVS Expressions

  • NG_009840.2:g.17368A>T
  • NM_006269.2:c.4552A>T
  • NP_006260.1:p.Lys1518Ter

Associated Genes

RP1 Gene
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Genomic Location

chr8:54628434

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

979010

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
180100.6.1Saudi Arabia2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 Index patient
180100.6.2Saudi Arabia2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 Sister of 180100.6.1
180100.6.3Saudi Arabia2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 Sister of 180100.6.1
180100.6.4Saudi Arabia2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 Brother of 180100.6.1
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Contributors

  • Sayeeda Hana: 05.11.2020

Edit History

  • Sayeeda Hana: 09.11.2020
  • Sayeeda Hana: 05.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.