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NM_153704.6:c.2306del
Home
NM_153704.6:c.2306del
HGVS Expressions
NG_009190.1:g.53825del
NM_153704.6:c.2306del
NP_714915.3:p.Leu769TyrfsTer4
NC_000008.11:g.93803668del
Associated Genes
Transmembrane Protein 67
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Deletion
Clinvar
1252092
Epidemiology in the Arab World
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All Countries
Arab
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
607361.10.1
Saudi Arabia
2
Likely Pathogenic, Pathogenic
Meckel Syndrome, Type 3
Shaheen et al. 2013
607361.10.2
Saudi Arabia
1
Likely Pathogenic, Pathogenic
Shaheen et al. 2013
Father of patient 607361.10.1
607361.10.3
Saudi Arabia
1
Likely Pathogenic, Pathogenic
Shaheen et al. 2013
Mother of patient 607361.10.1
607361.12
Arab
2
NA
Likely Pathogenic
Meckel Syndrome, Type 3
Maddirevula et al. 2018
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Contributors
Sami Bizzari: 23.06.2020
Edit History
Pratibha Nair: 10.11.2022
Asha Deepthi: 21.02.2022
Rahila Mir: 14.02.2022
Sami Bizzari: 25.06.2020
Sami Bizzari: 23.06.2020
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