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NM_006343.3:c.1335_1336delAG
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NM_006343.3:c.1335_1336delAG
HGVS Expressions
NG_011607.1:g.100676_100677delAG
NM_006343.3:c.1335_1336delAG
NP_006334.2:p.Ala446SerfsTer28
Associated Genes
MER Tyrosine Kinase Protooncogene
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Genomic Location
chr2:111994289-111994290
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
Clinvar
979013
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
613862.5.1
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 38
Aldahmesh et al. 2009
613862.5.2
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 38
Aldahmesh et al. 2009
Brother of 613862.5.1
613862.G.1
Saudi Arabia
8
Pathogenic
Retinitis Pigmentosa 38
Patel et al, 2018
4 family members
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Contributors
Sayeeda Hana: 17.06.2020
Edit History
Pratibha Nair: 21.11.2022
Rahila Mir: 14.02.2022
Sayeeda Hana: 03.11.2020
Sayeeda Hana: 17.06.2020
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