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NM_000260.4:c.578C>T
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NM_000260.4:c.578C>T
HGVS Expressions
NG_009086.2:g.33522C>T
NM_000260.4:c.578C>T
NP_000251.3:p.Thr193Ile
Associated Genes
Myosin VIIA
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Genomic Location
chr11:77156767
Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
1188616455
Clinvar
500317
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
204000.3.1
Saudi Arabia
2
Likely Pathogenic
Leber Congenital Amaurosis 1
Wang et al. 2011
204000.3.2
Saudi Arabia
2
Likely Pathogenic
Leber Congenital Amaurosis 1
Wang et al. 2011
Sister of 204000.3.1
204000.3.3
Saudi Arabia
2
Likely Pathogenic
Leber Congenital Amaurosis 1
Wang et al. 2011
Brother of 204000.3.1
204000.3.4
Saudi Arabia
2
Likely Pathogenic
Leber Congenital Amaurosis 1
Wang et al. 2011
Relative of 204000.3.1
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Contributors
Sayeeda Hana: 20.07.2020
Edit History
Sayeeda Hana: 20.07.2020
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