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NM_000180.4:c.1978C>T
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NM_000180.4:c.1978C>T
HGVS Expressions
NG_009092.1:g.14802C>T
NM_000180.4:c.1978C>T
NP_000171.1:p.Arg660Ter
NC_000017.11:g.8012471C>T
Associated Genes
Guanylate Cyclase 2D, Membrane
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
61750161
Clinvar
98554
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
204000.11
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 1
Khan et al. 2014
204000.13
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 1
Khan et al. 2014
204000.15.1
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 1
Li et al. 2009
204000.15.2
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 1
Li et al. 2009
Brother of 204000.15.1
204000.15.3
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 1
Li et al. 2009
Brother of 204000.15.1
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Contributors
Sayeeda Hana: 04.09.2024
Edit History
Sayeeda Hana: 24.10.2024
Sayeeda Hana: 05.09.2024
Sayeeda Hana: 04.09.2024
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