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NM_152281.3:c.658G>C
Home
NM_152281.3:c.658G>C
HGVS Expressions
NG_012237.1:g.17720G>C
NM_152281.3:c.658G>C
NP_689494.3:p.Ala220Pro
Associated Genes
Golgin, RAB6-Interacting
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Genomic Location
chr1:170544841
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
183596463
Clinvar
218115
Epidemiology in the Arab World
View Map
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
231070.1.1
Saudi Arabia
2
Pathogenic
Geroderma Osteodysplasticum
Al-Dosari and Alkuraya, 2009
Family belongs to the Southern province ...
231070.1.2
Saudi Arabia
2
Pathogenic
Geroderma Osteodysplasticum
Al-Dosari and Alkuraya, 2009
Brother of 231070.1.1
231070.9.1
Saudi Arabia
2
NA
Pathogenic
Geroderma Osteodysplasticum
Maddirevula et al. 2018
231070.9.2
Saudi Arabia
2
NA
Pathogenic
Geroderma Osteodysplasticum
Maddirevula et al. 2018
Relative of 231070.9.1
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Contributors
Sayeeda Hana: 26.08.2020
Edit History
Asha Deepthi: 15.12.2021
Sayeeda Hana: 26.08.2020
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