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NM_000377.2:c.559+5G>C
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NM_000377.2:c.559+5G>C
HGVS Expressions
NG_007877.1:g.7343G>C
NM_000377.2:c.559+5G>C
NP_000368.1:p.?
NC_000023.11:g.48686139G>C
Associated Genes
WAS Gene
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
886039451
Clinvar
265290
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
301000.1.1
Saudi Arabia
1
Pathogenic
Wiskott-Aldrich Syndrome
Abu-Amero et al. 2004
Sibling of 301000.1.2
301000.1.2
Saudi Arabia
1
Pathogenic
Wiskott-Aldrich Syndrome
Abu-Amero et al. 2004
Sibling of 301000.1.1
301000.1.3
Saudi Arabia
1
Pathogenic
Abu-Amero et al. 2004
Mother of 301000.1.1 and 301000.1.2
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Contributors
Pratibha Nair: 03.07.2018
Edit History
Pratibha Nair: 08.11.2022
Pratibha Nair: 02.01.2019
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