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NM_001142800.2:c.875_890delinsTTTCT
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NM_001142800.2:c.875_890delinsTTTCT
HGVS Expressions
NG_023443.2:g.306871_306886delinsTTTCT
NM_001142800.2:c.875_890delinsTTTCT
NP_001136272.1:p.Glu292fs
Associated Genes
Eyes Shut Homolog
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Genomic Location
chr6:65405340-65405355
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Indel
dbSNP
1582249186
Clinvar
829892
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
602772.G.1
Saudi Arabia
4
Pathogenic
Retinitis Pigmentosa 25
Patel et al, 2018
2 members of a family
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Contributors
Sayeeda Hana: 07.07.2020
Edit History
Sayeeda Hana: 05.10.2020
Sayeeda Hana: 07.07.2020
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