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NM_005219.5:c.2769del
Home
NM_005219.5:c.2769del
HGVS Expressions
NG_011594.2:g.94875del
NM_005219.5:c.2769del
NP_005210.3:p.Phe923fs
NC_000005.10:g.141529183del
Associated Genes
Diaphanous-Related Formin 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
863225242
Clinvar
217753
Epidemiology in the Arab World
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Oman
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
616632.3.1
Oman
2
Pathogenic
Seizures, Cortical Blindness, and Microcephaly Syndrome
Al-Maawali et al. 2016
Patient had an older sister who "died of...
616632.3.2
Oman
2
Pathogenic
Seizures, Cortical Blindness, and Microcephaly Syndrome
Al-Maawali et al. 2016
Sibling of 616632.3.1
616632.3.3
Oman
2
Pathogenic
Seizures, Cortical Blindness, and Microcephaly Syndrome
Al-Maawali et al. 2016
Sibling of 616632.3.1
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Contributors
Sayeeda Hana: 27.10.2021
Edit History
Sayeeda Hana: 03.11.2021
Sayeeda Hana: 27.10.2021
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Algeria
Bahrain
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