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NM_004870.3:c.310G>A
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NM_004870.3:c.310G>A
HGVS Expressions
NG_009204.1:g.8053G>A
NM_004870.3:c.310G>A
NP_004861.2:p.Gly104Ser
NC_000017.11:g.7586699G>A
Associated Genes
Mannose-P-Dolichol Utilization Defect 1
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Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
1555570093
Clinvar
495318
Epidemiology in the Arab World
View Map
All Countries
United Arab Emirates
Yemen
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
609180.1.1
Yemen
2
Likely Pathogenic
Congenital Disorder Of Glycosylation, Type If
Bastaki et al. 2018
609180.1.2
Yemen
2
Likely Pathogenic
Congenital Disorder Of Glycosylation, Type If
Bastaki et al. 2018
Brother of 609180.1.1
609180.1.3
Yemen
1
Bastaki et al. 2018
Father of 609180.1.1
609180.1.4
Yemen
1
Bastaki et al. 2018
Mother of 609180.1.1
609180.2.1
United Arab Emirates
2
Likely Pathogenic
Congenital Disorder Of Glycosylation, Type If
Bastaki et al. 2018
609180.2.2
United Arab Emirates
1
Bastaki et al. 2018
Father of 609180.2.1
609180.2.3
United Arab Emirates
1
Bastaki et al. 2018
Mother of 609180.2.1
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Contributors
Sayeeda Hana: 31.03.2021
Edit History
Sayeeda Hana: 19.05.2021
Sayeeda Hana: 18.05.2021
Sayeeda Hana: 31.03.2021
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