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NM_000168.6:c.2432-1G>A
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NM_000168.6:c.2432-1G>A
HGVS Expressions
NG_008434.1:g.275379G>A
NM_000168.6:c.2432-1G>A
NP_000159.3:p.?
NC_000007.14:g.41966642C>T
Associated Genes
GLI-Kruppel Family Member 3
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
Clinvar
1406215
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
146510.1.1
Saudi Arabia
1
NA
Pathogenic
Pallister-Hall Syndrome
Maddirevula et al. 2018
146510.1.2
Saudi Arabia
1
NA
Pathogenic
Pallister-Hall Syndrome
Maddirevula et al. 2018
Relative of 146510.1.1
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Contributors
Asha Deepthi: 30.11.2021
Edit History
Pratibha Nair: 10.11.2022
Rahila Mir: 14.02.2022
Asha Deepthi: 30.11.2021
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