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NM_005033.3:c.41T>C
Home
NM_005033.3:c.41T>C
HGVS Expressions
NG_029848.1:g.5149T>C
NM_005033.3:c.41T>C
NP_005024.2:p.Leu14Pro
NC_000004.12:g.121801465T>C
Associated Genes
Exosome Component 9
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic, Uncertain Significance
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
139632595
Clinvar
549845
Epidemiology in the Arab World
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All Countries
Saudi Arabia
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
618065.1
United Arab Emirates
2
Pathogenic
Pontocerebellar Hypoplasia, Type 1D
Bizzari et al. 2020
The patient had 2 second cousins with ps...
618065.2.1
United Arab Emirates
2
Pathogenic
Pontocerebellar Hypoplasia, Type 1D
Bizzari et al. 2020
The patient had 2 first cousins once rem...
618065.2.2
United Arab Emirates
1
Bizzari et al. 2020
Father of 618065.2.1
618065.2.3
United Arab Emirates
1
Bizzari et al. 2020
Mother of 618065.2.1
618065.3.1
Saudi Arabia
2
NA
Pathogenic
Pontocerebellar Hypoplasia, Type 1D
Burns et al. 2018
'Individual 3:II-1' in the publication. ...
618065.3.2
Saudi Arabia
1
NA
Burns et al. 2018
Father of 618065.3.1
618065.3.3
Saudi Arabia
1
NA
Burns et al. 2018
Mother of 618065.3.1
618065.G.1
United Arab Emirates
5
Bizzari et al. 2020
Parents and 3 healthy sisters of 618065....
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Contributors
Sayeeda Hana: 30.03.2021
Edit History
Pratibha Nair: 28.11.2022
Asha Deepthi: 19.10.2022
Sayeeda Hana: 30.03.2021
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Arab Countries with reported incidence
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