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NM_001854.3:c.2702G>A
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NM_001854.3:c.2702G>A
HGVS Expressions
NG_008033.1:g.134630G>A
NM_001854.3:c.2702G>A
NP_001845.3:p.Gly901Glu
NC_000001.11:g.102978867C>T
Associated Genes
Collagen, Type XI, Alpha-1
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CTGA Clinical Significance
Likely Pathogenic, Uncertain Significance
Variant Type
Substitution
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
228520.1.1
Saudi Arabia
2
NA
Likely Pathogenic
Fibrochondrogenesis 1
Khalifa et al. 2012
Patient 1 in the publication
228520.1.2
Saudi Arabia
2
NA
Likely Pathogenic
Fibrochondrogenesis 1
Khalifa et al. 2012
Patient 2 in the publication, brother of...
228520.1.3
Saudi Arabia
1
NA
Uncertain Significance
Khalifa et al. 2012
Sibling of 228520.1.1, mild phenotype no...
228520.1.4
Saudi Arabia
1
NA
Uncertain Significance
Khalifa et al. 2012
Sibling of 228520.1.1, mild phenotype no...
228520.1.5
Saudi Arabia
1
NA
Uncertain Significance
Khalifa et al. 2012
Father of 228520.1.1, mild phenotype not...
228520.1.6
Saudi Arabia
1
NA
Uncertain Significance
Khalifa et al. 2012
Mother of 228520.1.1, mild phenotype not...
228520.4.1
Saudi Arabia
2
NA
Likely Pathogenic
Fibrochondrogenesis 1
Maddirevula et al. 2018
228520.4.2
Saudi Arabia
2
NA
Likely Pathogenic
Fibrochondrogenesis 1
Maddirevula et al. 2018
Relative of 228520.4.1
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Contributors
Edit History
Rahila Mir: 09.02.2022
Asha Deepthi: 02.11.2021
Asha Deepthi: 09.03.2021
Asha Deepthi: 17.12.2018
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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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