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NM_173076.2:c.2486dup
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NM_173076.2:c.2486dup
HGVS Expressions
NG_007074.1:g.135595dup
NM_173076.2:c.2486dup
NP_775099.2:p.Arg830GlufsTer16
NC_000002.12:g.215007833dup
Associated Genes
ATP-Binding Cassette, Subfamily A, Member 12
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Duplication
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
242500.1.1
United Arab Emirates
2
Likely Pathogenic
Ichthyosis Congenita, Harlequin Fetus Type
Bastaki et al. 2017
242500.1.2
United Arab Emirates
1
Bastaki et al. 2017
Father of 242500.1.1
242500.1.3
United Arab Emirates
1
Bastaki et al. 2017
Mother of 242500.1.1
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Contributors
Sayeeda Hana: 27.08.2020
Edit History
Pratibha Nair: 03.01.2023
Pratibha Nair: 23.08.2022
Rahila Mir: 17.02.2022
Sayeeda Hana: 27.08.2020
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