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NM_001079818.3:c.140C>T
Home
NM_001079818.3:c.140C>T
HGVS Expressions
NG_008853.1:g.5343C>T
NM_001079818.3:c.140C>T
NP_001073286.1:p.Ser47Leu
NC_000002.12:g.172427928C>T
Associated Genes
Integrin, Alpha-6
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
1377038208
Clinvar
1526406
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
619817.1.1
United Arab Emirates
2
Pathogenic
Epidermolysis Bullosa, Junctional 6, with Pyloric Atresia
Allegra et al. 2003
619817.1.2
United Arab Emirates
1
Allegra et al. 2003
Father of 226730.1.1
619817.1.3
United Arab Emirates
1
Allegra et al. 2003
Mother of 226730.1.1
619817.1.4
United Arab Emirates
1
Allegra et al. 2003
Uncle of 226730.1.1
619817.1.5
United Arab Emirates
1
Allegra et al. 2003
Paternal grandfather of 226730.1.1
619817.1.6
United Arab Emirates
1
Allegra et al. 2003
Maternal grandfather of 226730.1.1, brot...
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Contributors
Sayeeda Hana: 16.09.2020
Edit History
Pratibha Nair: 10.11.2022
Pratibha Nair: 29.09.2022
Pratibha Nair: 23.08.2022
Rahila Mir: 17.02.2022
Sayeeda Hana: 16.09.2020
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