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NM_006269.1:c.3677dup
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NM_006269.1:c.3677dup
HGVS Expressions
NG_009840.1:g.16493dup
NM_006269.1:c.3677dup
NP_006260.1:p.Asn1226LysfsTer2
Associated Genes
RP1 Gene
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Genomic Location
chr8:54627559
CTGA Clinical Significance
Pathogenic
Variant Type
Duplication
Epidemiology in the Arab World
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Iraq
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
180100.4.1
Iraq
2
Pathogenic
Retinitis Pigmentosa 1
Al-Rashed et al. 2012
Index patient
180100.4.2
Iraq
2
Pathogenic
Retinitis Pigmentosa 1
Al-Rashed et al. 2012
Sister of 180100.4.1
180100.4.3
Iraq
2
Pathogenic
Retinitis Pigmentosa 1
Al-Rashed et al. 2012
Brother of 180100.4.1
180100.4.4
Iraq
2
Pathogenic
Retinitis Pigmentosa 1
Al-Rashed et al. 2012
Sister of 180100.4.1
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Contributors
Sayeeda Hana: 05.11.2020
Edit History
Rahila Mir: 14.02.2022
Sami Bizzari: 13.10.2021
Sayeeda Hana: 09.11.2020
Sayeeda Hana: 05.11.2020
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