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NM_032119.4:c.1477C>T
Home
NM_032119.4:c.1477C>T
HGVS Expressions
NG_007083.2:g.104457C>T
NM_032119.4:c.1477C>T
NP_115495.3:p.Arg493Ter
NC_000005.10:g.90628800C>T
Associated Genes
Adhesion G Protein-Coupled Receptor V1
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
779948710
Clinvar
1064951
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
605472.4.1
United Arab Emirates
1
Likely Pathogenic
Usher Syndrome, Type IIC
Elsayed O and Al-Shamsi A. 2022
Potentially de novo. Healthy asymptomati...
605472.4.2
United Arab Emirates
1
Likely Pathogenic
Usher Syndrome, Type IIC
Elsayed O and Al-Shamsi A. 2022
Potentially de novo. Healthy asymptomati...
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Contributors
Sami Bizzari: 26.09.2023
Edit History
Sami Bizzari: 05.10.2023
Sami Bizzari: 26.09.2023
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