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NM_153816.6:c.645dup
Home
NM_153816.6:c.645dup
HGVS Expressions
NG_047171.1:g.49288dup
NM_153816.6:c.645dup
NP_001337472.1:p.Glu119fs
NC_000006.12:g.85549869dup
Associated Genes
Sorting Nexin 14
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Duplication
dbSNP
869320748
Clinvar
190316
Epidemiology in the Arab World
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Egypt
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
616354.9
Egypt
2
Pathogenic
Spinocerebellar Ataxia, Autosomal Recessive 20
Akizu et al. 2015
The patient had a similarly affected sis...
616354.11
Egypt
2
Pathogenic
Spinocerebellar Ataxia, Autosomal Recessive 20
Akizu et al. 2015
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Contributors
Sayeeda Hana: 10.08.2021
Edit History
Sayeeda Hana: 15.08.2021
Sayeeda Hana: 10.08.2021
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