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NM_152564.5:c.1219C>T
Home
NM_152564.5:c.1219C>T
HGVS Expressions
NG_007098.2:g.126379C>T
NM_152564.5:c.1219C>T
NP_060360.3:p.Gln407Ter
NC_000008.11:g.99134644C>T
Associated Genes
Vacuolar Protein Sorting 13, Yeast, Homolog of, B
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
386834070
Clinvar
56645
Epidemiology in the Arab World
View Map
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
216550.2.1
Saudi Arabia
2
Pathogenic
Cohen Syndrome
Mochida et al. 2004
Sibling of 216550.2.2 and 216550.2.3
216550.2.2
Saudi Arabia
2
Pathogenic
Cohen Syndrome
Mochida et al. 2004
Sibling of 216550.2.1 and 216550.2.3
216550.2.3
Saudi Arabia
2
Pathogenic
Cohen Syndrome
Mochida et al. 2004
Sibling of 216550.2.1 and 216550.2.2
216550.9.1
Saudi Arabia
2
Pathogenic
Cohen Syndrome
Charng et al. 2016
Proband from 'family 034' in the publica...
216550.9.2
Saudi Arabia
1
Charng et al. 2016
Father of 216550.9.1
216550.9.3
Saudi Arabia
1
Charng et al. 2016
Mother of 216550.9.1
216550.10
Saudi Arabia
2
Pathogenic
Cohen Syndrome
Monies et al. 2017
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Contributors
Pratibha Nair: 06.12.2018
Edit History
Asha Deepthi: 18.11.2024
Asha Deepthi: 05.08.2024
Precise Support: 07.11.2022
Pratibha Nair: 12.10.2022
Pratibha Nair: 24.12.2018
Pratibha Nair: 06.12.2018
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Algeria
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Libya
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Morocco
Oman
Palestine
Qatar
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Arab Countries with reported incidence
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