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NM_000059.4:c.6322C>T
Home
NM_000059.4:c.6322C>T
HGVS Expressions
NG_012772.3:g.30198C>T
NM_000059.4:c.6322C>T
NP_000050.3:p.Arg2108Cys
Associated Genes
BRCA2 Gene
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Genomic Location
chr13:32340677
Clinvar Clinical Significance
Benign, Likely Benign
CTGA Clinical Significance
Benign, Uncertain Significance
Variant Type
Substitution
dbSNP
55794205
Clinvar
41559
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
114480.15
Lebanon
Benign
Breast Cancer
Jalkh et al, 2012
114480.97
Lebanon
1.4
Uncertain Significance
Breast Cancer
El Saghir et al. 2015
Patient with stage III ductal carcinoma
114480.98
Lebanon
1.4
Uncertain Significance
Breast Cancer
El Saghir et al. 2015
Patient with stage I ductal carcinoma
114480.99
Lebanon
1.4
Uncertain Significance
Breast Cancer
El Saghir et al. 2015
Patient with stage IV ductal carcinoma
114480.100
Lebanon
1.4
Uncertain Significance
Breast Cancer
El Saghir et al. 2015
Patient with stage II ductal carcinoma
114480.101
Lebanon
1.4
Uncertain Significance
Breast Cancer
El Saghir et al. 2015
Patient with stage II lobular carcinoma
114480.102
Lebanon
1.4
Uncertain Significance
Breast Cancer
El Saghir et al. 2015
Patient with stage II ductal carcinoma
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Contributors
Asha Deepthi: 10.06.2020
Edit History
Asha Deepthi: 17.01.2021
Asha Deepthi: 11.06.2020
Asha Deepthi: 10.06.2020
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Algeria
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Comoros
Country not specified
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Jordan
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Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
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Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
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