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NM_153816.6:c.428T>A
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NM_153816.6:c.428T>A
HGVS Expressions
NG_047171.1:g.31590T>A
NM_153816.6:c.428T>A
NP_001337461.1:p.Leu164Ter
NC_000006.12:g.85567567A>T
Associated Genes
Sorting Nexin 14
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
876657387
Clinvar
190319
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
616354.5
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: 10.08.2021
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