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NM_015087.4:c.1324G>C
Home
NM_015087.4:c.1324G>C
HGVS Expressions
NG_011559.2:g.60794T>C
NM_015087.4:c.1324G>C
NP_055902.1:p.Ala442Pro
NC_000013.11:g.36314386C>G
Associated Genes
Spartin
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
275900.1.1
United Arab Emirates
2
Likely Pathogenic
Spastic Paraplegia 20, Autosomal Recessive
Bizzari et al. 2017
Proband
275900.1.2
United Arab Emirates
2
Likely Pathogenic
Spastic Paraplegia 20, Autosomal Recessive
Bizzari et al. 2017
Sister of 275900.1.1
275900.1.3
United Arab Emirates
2
Likely Pathogenic
Spastic Paraplegia 20, Autosomal Recessive
Bizzari et al. 2017
Brother of 275900.1.1
275900.1.4
United Arab Emirates
2
Likely Pathogenic
Spastic Paraplegia 20, Autosomal Recessive
Bizzari et al. 2017
First cousin of 275900.1.1. Sha had a yo...
275900.1.5
United Arab Emirates
2
Likely Pathogenic
Spastic Paraplegia 20, Autosomal Recessive
Bizzari et al. 2017
First cousin of 275900.1.1. Sha had a yo...
275900.1.6
United Arab Emirates
1
Bizzari et al. 2017
Father of 275900.1.1
275900.1.7
United Arab Emirates
1
Bizzari et al. 2017
Mother of 275900.1.1
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Contributors
Sayeeda Hana: 08.04.2021
Edit History
Rahila Mir: 14.02.2022
Sayeeda Hana: 28.04.2021
Sayeeda Hana: 08.04.2021
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