NM_006269.1:c.3428del

HGVS Expressions

  • NG_009840.1:g.16244del
  • NM_006269.1:c.3428del
  • NP_006260.1:p.Asn1143fs

Associated Genes

RP1 Gene
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Genomic Location

chr8:54627310

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

979006

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
180100.7.1Saudi Arabia2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 Index patient
180100.7.2Saudi Arabia2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 Brother of 180100.7.1
180100.7.3Saudi Arabia2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 Maternal grandfather of 180100.7.1
180100.7.4Saudi Arabia2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 Maternal great-aunt of 180100.7.1
180100.7.5Saudi Arabia2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 Maternal great-aunt of 180100.7.1
180100.7.6Saudi Arabia2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 First cousin, once removed, of 180100.7....
180100.8.1Saudi Arabia2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 Index patient
180100.8.2Saudi Arabia2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 Brother of 180100.8.1
180100.8.3Saudi Arabia2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 Brother of 180100.8.1
180100.9.1Saudi Arabia2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 Index patient
180100.9.2Saudi Arabia2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 Sister of 180100.9.1
180100.9.3Saudi Arabia2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 First cousin, once removed, of 180100.9....
180100.9.4Saudi Arabia2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 First cousin, once removed, of 180100.9....
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