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NM_007294.4:c.131G>T
Home
NM_007294.4:c.131G>T
HGVS Expressions
NG_005905.2:g.102255G>T
NM_007294.4:c.131G>T
NP_009225.1:p.Cys44Phe
Associated Genes
Breast Cancer 1 Gene
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Genomic Location
chr17:43115729
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
80357446
Clinvar
54200
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
114480.40
Lebanon
Pathogenic
Breast Cancer
Jalkh et al, 2017
Patient 'B36' from family 13 in the publ...
114480.59
Lebanon
Pathogenic
Breast Cancer
Jalkh et al, 2017
Patient 'D7' from family 30 in the publi...
114480.66
Lebanon
1
Pathogenic
Breast Cancer
El Saghir et al. 2015
Patient with stage II ductal carcinoma
114480.67
Lebanon
1
Pathogenic
Breast Cancer
El Saghir et al. 2015
Patient with stage II ductal carcinoma
114480.G.1.1
Lebanon
Pathogenic
Breast Cancer
Jalkh et al, 2012
2 unrelated patients with breast cancer
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Contributors
Asha Deepthi: 03.06.2020
Edit History
Asha Deepthi: 26.01.2021
Asha Deepthi: 13.01.2021
Asha Deepthi: 05.10.2020
Asha Deepthi: 07.06.2020
Asha Deepthi: 03.06.2020
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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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