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NM_206933.4:c.486-1G>C
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NM_206933.4:c.486-1G>C
HGVS Expressions
NG_009497.2:g.9769G>C
NM_206933.4:c.486-1G>C
Associated Genes
USH2A gene
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Genomic Location
chr1:216418680
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
876657730
Clinvar
228413
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
276901.G.1
Saudi Arabia
8
Pathogenic
Usher Syndrome, Type IIA
Patel et al, 2018
4 members of a family
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Contributors
Sayeeda Hana: 01.07.2020
Edit History
Sayeeda Hana: 02.07.2020
Sayeeda Hana: 01.07.2020
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