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NM_018979.4:c.2140-2489del
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NM_018979.4:c.2140-2489del
HGVS Expressions
NG_007984.3:g.120718del
NM_018979.4:c.2140-2489del
NP_001171914.1:p.Pro1017LeufsTer2
NC_000012.12:g.868776del
Associated Genes
Protein Kinase, Lysine-Deficient 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
Clinvar
973158
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
201300.2.1
Lebanon
2
Pathogenic
Neuropathy, Hereditary Sensory and Autonomic, Type II
Riviere et al, 2004
Proband
201300.2.2
Lebanon
2
Pathogenic
Neuropathy, Hereditary Sensory and Autonomic, Type II
Riviere et al, 2004
Paternal uncle of 201300.2.1
201300.2.3
Lebanon
2
Pathogenic
Neuropathy, Hereditary Sensory and Autonomic, Type II
Riviere et al, 2004
Maternal aunt of 201300.2.1
201300.2.4
Lebanon
2
Pathogenic
Neuropathy, Hereditary Sensory and Autonomic, Type II
Riviere et al, 2004
Relative of 201300.2.1
201300.2.5
Lebanon
1
Pathogenic
Riviere et al, 2004
Unaffected father of 201300.2.1
201300.2.6
Lebanon
1
Pathogenic
Riviere et al, 2004
Unaffected mother of 201300.2.1
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Contributors
Sayeeda Hana: 27.02.2020
Edit History
Sami Bizzari: 30.05.2021
Sayeeda Hana: 05.10.2020
Sayeeda Hana: 27.02.2020
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