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NM_175876.4:c.1819_1820del
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NM_175876.4:c.1819_1820del
HGVS Expressions
NG_051632.1:g.6946_6947del
NM_175876.4:c.1819_1820del
NP_787072.2:p.Asp607Ter
NC_000001.11:g.231335926_231335927del
Associated Genes
Exocyst Complex Component 8
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CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
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
619076.1.1
Palestine
2
Pathogenic
Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy
Coulter et al. 2020
619076.1.2
Palestine
2
Pathogenic
Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy
Coulter et al. 2020
Sister of 619076.1.1
619076.1.3
Palestine
2
Pathogenic
Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy
Coulter et al. 2020
Sister of 619076.1.1
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Contributors
Sayeeda Hana: 26.10.2021
Edit History
Rahila Mir: 09.02.2022
Sayeeda Hana: 26.10.2021
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