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NM_138425.4:c.53-2A>G
Home
NM_138425.4:c.53-2A>G
HGVS Expressions
NG_034262.1:g.5658A>G
NM_138425.4:c.53-2A>G
NC_000012.12:g.6944474A>G
Associated Genes
Chromosome 12 Open Reading Frame 57
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
1114167293
Clinvar
242885
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
218340.5
Saudi Arabia
2
Pathogenic
Temtamy Syndrome
Alrakaf et al. 2018
218340.6
Saudi Arabia
2
Pathogenic
Temtamy Syndrome
Alrakaf et al. 2018
218340.7
Saudi Arabia
2
Pathogenic
Temtamy Syndrome
Alrakaf et al. 2018
218340.19
Saudi Arabia
2
Likely Pathogenic
Temtamy Syndrome
Monies et al. 2019
218340.20.1
Saudi Arabia
2
Likely Pathogenic
Temtamy Syndrome
Charng et al. 2016
Proband from 'family 024' in the publica...
218340.20.2
Saudi Arabia
1
Charng et al. 2016
Father of 218340.20.1
218340.20.3
Saudi Arabia
1
Charng et al. 2016
Mother of 218340.20.1
218340.28
Saudi Arabia
2
Pathogenic
Temtamy Syndrome
Monies et al. 2017
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Contributors
Sayeeda Hana: 23.10.2021
Edit History
Asha Deepthi: 04.10.2024
Asha Deepthi: 05.08.2024
Pratibha Nair: 18.12.2023
Sayeeda Hana: 23.10.2021
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Palestine
Qatar
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Arab Countries with reported incidence
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