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NM_032856.3:c.703C>T
Home
NM_032856.3:c.703C>T
HGVS Expressions
NG_042034.1:g.13693C>T
NM_032856.3:c.703C>T
NP_116245.2:p.Gln235Ter
NC_000015.10:g.84645651G>A
Associated Genes
WD Repeat-Containing Protein 73
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
797044992
Clinvar
208465
Epidemiology in the Arab World
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Egypt
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
251300.4.1
Egypt
2
Pathogenic
Galloway-Mowat Syndrome 1
Ben-Omran et al, 2015
251300.4.2
Egypt
2
Pathogenic
Galloway-Mowat Syndrome 1
Ben-Omran et al, 2015
Sibling of 251300.4.1
251300.4.3
Egypt
1
Pathogenic
Ben-Omran et al, 2015
Father of 251300.4.1
251300.4.4
Egypt
1
Pathogenic
Ben-Omran et al, 2015
Mother of 251300.4.1
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Contributors
Sami Bizzari: 28.07.2019
Edit History
Pratibha Nair: 22.11.2022
Sami Bizzari: 07.05.2020
Sami Bizzari: 28.07.2019
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