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NM_006269.2:c.662del
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NM_006269.2:c.662del
HGVS Expressions
NG_009840.1:g.11097del
NM_006269.2:c.662del
NP_006260.1:p.Ala221fs
Associated Genes
RP1 Gene
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Genomic Location
chr8:54622163
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
Clinvar
979012
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
180100.3.1
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 1
Aldahmesh et al. 2009
180100.3.2
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 1
Aldahmesh et al. 2009
Brother of 180100.3.1
180100.3.3
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 1
Aldahmesh et al. 2009
Brother of 180100.3.1
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Contributors
Sayeeda Hana: 03.11.2020
Edit History
Sayeeda Hana: 05.11.2020
Sayeeda Hana: 03.11.2020
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