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NM_006343.3:c.2189+1G>T
Home
NM_006343.3:c.2189+1G>T
HGVS Expressions
NG_011607.1:g.125910G>T
NM_006343.3:c.2189+1G>T
Associated Genes
MER Tyrosine Kinase Protooncogene
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Genomic Location
chr2:112019523
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
371956016
Clinvar
5403
Epidemiology in the Arab World
View Map
All Countries
Morocco
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
613862.3.1
Morocco
2
Pathogenic
Retinitis Pigmentosa 38
Ebermann et al. 2007
Index patient (identified as II:5 in the...
613862.3.2
Morocco
2
Pathogenic
Retinitis Pigmentosa 38
Ebermann et al. 2007
Brother of 613862.3.1 (II:3 in the pap...
613862.3.3
Morocco
2
Pathogenic
Retinitis Pigmentosa 38
Ebermann et al. 2007
Brother of 613862.3.1 (II:1 in the pap...
613862.3.4
Morocco
2
Pathogenic
Retinitis Pigmentosa 38
Ebermann et al. 2007
Brother of 613862.3.1 (II:4 in the pap...
613862.3.5
Morocco
2
Pathogenic
Retinitis Pigmentosa 38
Ebermann et al. 2007
Sister of 613862.3.1 (II:6 in the pape...
613862.3.6
Morocco
1
Ebermann et al. 2007
Father of 613862.3.1 (I:1 in the paper...
613862.3.7
Morocco
1
Ebermann et al. 2007
Mother of 613862.3.1 (I:2 in the paper...
613862.G.9
Saudi Arabia
4+
Pathogenic
Retinitis Pigmentosa 38
Patel et al. 2016
Family with unknown number of affected m...
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Contributors
Sayeeda Hana: 22.07.2020
Edit History
Sayeeda Hana: 21.08.2024
Sayeeda Hana: 23.07.2020
Sayeeda Hana: 22.07.2020
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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