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NM_002435.2:c.863C>T
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NM_002435.2:c.863C>T
HGVS Expressions
NG_008921.1:g.11961C>T
NM_002435.2:c.863C>T
NP_002426.1:p.Ala288Val
NC_000015.10:g.74897029C>T
Associated Genes
Mannosephosphate Isomerase
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
775111649
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
602579.2.1
United Arab Emirates
2
Likely Pathogenic
Congenital Disorder of Glycosylation, Type Ib
Deeb et al, 2018
602579.2.2
United Arab Emirates
1
Likely Pathogenic
Deeb et al, 2018
Mother of 602579.2.1
602579.2.3
United Arab Emirates
1
Likely Pathogenic
Deeb et al, 2018
Father of 602579.2.1
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Contributors
Pratibha Nair: 29.01.2019
Edit History
Pratibha Nair: 23.08.2022
Rahila Mir: 14.02.2022
Pratibha Nair: 29.01.2019
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