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MERTK, 9-KB DEL
Home
MERTK, 9-KB DEL
HGVS Expressions
Associated Genes
MER Tyrosine Kinase Protooncogene
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
Clinvar
37302
Epidemiology in the Arab World
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All Countries
Arab
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
613862.1.1
Arab
2
Pathogenic
Retinitis Pigmentosa 38
Mackay et al. 2010
Proband
613862.1.2
Arab
2
Pathogenic
Retinitis Pigmentosa 38
Mackay et al. 2010
Brother of 613862.1.1
613862.1.3
Arab
1
Mackay et al. 2010
Father of 613862.1.1
613862.1.4
Arab
1
Mackay et al. 2010
Mother of 613862.1.1
613862.1.5
Arab
1
Mackay et al. 2010
Brother of 613862.1.1
613862.1.6
Arab
1
Mackay et al. 2010
Sister of 613862.1.1
613862.1.7
Arab
1
Mackay et al. 2010
Brother of 613862.1.1
613862.G.2
Saudi Arabia
10
Pathogenic
Retinitis Pigmentosa 38
Mackay et al. 2010
5 affected members of a family
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Contributors
Sayeeda Hana: 22.07.2020
Edit History
Sayeeda Hana: 05.10.2020
Sayeeda Hana: 23.07.2020
Sayeeda Hana: 22.07.2020
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