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NM_001374385.1:c.379C>G
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NM_001374385.1:c.379C>G
HGVS Expressions
NG_007148.2:g.103527C>G
NM_001374385.1:c.379C>G
NP_001361314.1:p.Leu127Val
NC_000018.10:g.57704569G>C
Associated Genes
ATPase, Class I, Type 8B, Member 1
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CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
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
243300.1.1
United Arab Emirates
2
Pathogenic
Cholestasis, Benign Recurrent Intrahepatic, 1
Al-Shamsi et al. 2016
243300.1.2
United Arab Emirates
2
Pathogenic
Cholestasis, Benign Recurrent Intrahepatic, 1
Al-Shamsi et al. 2016
Sibling of 243300.1.1
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Contributors
Pratibha Nair: 05.07.2020
Edit History
Sami Bizzari: 03.01.2023
Pratibha Nair: 29.11.2022
Pratibha Nair: 23.08.2022
Rahila Mir: 14.02.2022
Pratibha Nair: 06.07.2020
Pratibha Nair: 05.07.2020
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