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NM_001184985.1:c.2971C>T
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NM_001184985.1:c.2971C>T
HGVS Expressions
NG_007984.3:g.120639C>T
NM_001184985.1:c.2971C>T
NP_001171914.1:p.Arg991Ter
Associated Genes
Protein Kinase, Lysine-Deficient 1
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Genomic Location
chr12:813750
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
111033591
Clinvar
5168
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
201300.1.1
Lebanon
2
Pathogenic
Neuropathy, Hereditary Sensory and Autonomic, Type II
Roddier et al, 2005
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Contributors
Sayeeda Hana: 28.07.2019
Edit History
Sayeeda Hana: 27.02.2020
Sayeeda Hana: 01.02.2020
Sayeeda Hana: 28.07.2019
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