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NM_007374.3:c.532_536del
Home
NM_007374.3:c.532_536del
HGVS Expressions
NG_008203.1:g.5711_5715del
NM_007374.3:c.532_536del
NP_031400.2:p.Asn178fs
NC_000014.9:g.60509930_60509934del
Associated Genes
Six Homeobox 6
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Deletion
dbSNP
786205142
Clinvar
189377
Epidemiology in the Arab World
View Map
Syria
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
212550.1.1
Syria
2
Pathogenic
Optic Disc Anomalies with Retinal and/or Macular Dystrophy
Deepthi et al. 2021
Proband
212550.1.2
Syria
2
Pathogenic
Optic Disc Anomalies with Retinal and/or Macular Dystrophy
Deepthi et al. 2021
Brother of 212550.1.1
212550.2.1
Syria
2
Likely Pathogenic
Optic Disc Anomalies with Retinal and/or Macular Dystrophy
Aldahmesh et al. 2013;
Patel et al. 2018
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Contributors
Sayeeda Hana: 29.03.2021
Edit History
Pratibha Nair: 05.10.2023
Pratibha Nair: 04.10.2023
Sayeeda Hana: 29.03.2021
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