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NM_007055.4:c.2003+18G>A
Home
NM_007055.4:c.2003+18G>A
HGVS Expressions
NG_029648.1:g.25022G>A
NM_007055.4:c.2003+18G>A
Associated Genes
Polymerase III, RNA, Subunit A
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Genomic Location
chr10:78009519
Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
267608677
Clinvar
31144
Epidemiology in the Arab World
View Map
Syria
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
614258.1.1
Syria
2
Pathogenic
Leukodystrophy, Hypomyelinating, 7, with or without Oligodontia and/or Hypogonadotropic Hypogonadism
Atrouni et al. 2003;
Bernard et al. 2012
614258.1.2
Syria
2
Pathogenic
Leukodystrophy, Hypomyelinating, 7, with or without Oligodontia and/or Hypogonadotropic Hypogonadism
Atrouni et al. 2003;
Bernard et al. 2012
Sibling of 614258.1.1
614258.1.3
Syria
2
Pathogenic
Leukodystrophy, Hypomyelinating, 7, with or without Oligodontia and/or Hypogonadotropic Hypogonadism
Atrouni et al. 2003;
Bernard et al. 2012
Sibling of 614258.1.1
614258.1.4
Syria
2
Pathogenic
Leukodystrophy, Hypomyelinating, 7, with or without Oligodontia and/or Hypogonadotropic Hypogonadism
Atrouni et al. 2003;
Bernard et al. 2012
Sibling of 614258.1.1
614258.1.5
Syria
2
Pathogenic
Leukodystrophy, Hypomyelinating, 7, with or without Oligodontia and/or Hypogonadotropic Hypogonadism
Atrouni et al. 2003;
Bernard et al. 2012
First cousin of 614258.1.1
614258.1.6
Syria
2
Pathogenic
Leukodystrophy, Hypomyelinating, 7, with or without Oligodontia and/or Hypogonadotropic Hypogonadism
Atrouni et al. 2003;
Bernard et al. 2012
First cousin of 614258.1.1
614258.1.7
Syria
1
Pathogenic
Bernard et al. 2012
Father of 614258.1.1
614258.1.8
Syria
1
Pathogenic
Bernard et al. 2012
Mother of 614258.1.1
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Contributors
Pratibha Nair: 12.05.2020
Edit History
Pratibha Nair: 12.05.2020
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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