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NM_153704.5:c.1065+1delG
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NM_153704.5:c.1065+1delG
HGVS Expressions
NG_009190.1:g.31902delG
NM_153704.5:c.1065+1delG
Associated Genes
Transmembrane Protein 67
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Genomic Location
chr8:93786270
Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
dbSNP
Clinvar
56763
Epidemiology in the Arab World
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Palestine
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
607361.4.1
Palestine
2
Likely Pathogenic
Meckel Syndrome, Type 3
Khaddour et al. 2007
The proband had an affected sibling who ...
607361.4.2
Palestine
1
Likely Pathogenic
Khaddour et al. 2007
Father of patient 607361.4.1
607361.4.3
Palestine
1
Likely Pathogenic
Khaddour et al. 2007
Mother of patient 607361.4.1
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Contributors
Sami Bizzari: 17.05.2020
Edit History
Sami Bizzari: 24.06.2020
Sami Bizzari: 23.06.2020
Sami Bizzari: 17.05.2020
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