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NM_004625.4:c.610G>A
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NM_004625.4:c.610G>A
HGVS Expressions
NG_008088.1:g.65738G>A
NM_004625.4:c.610G>A
NP_004616.2:p.Gly204Ser
NC_000003.12:g.13819384C>T
Associated Genes
Wingless-Type MMTV Integration Site Family, Member 7A
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
387907231
Clinvar
35537
Epidemiology in the Arab World
View Map
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
228930.1
Saudi Arabia
2
Pathogenic
Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly
Al-Qattan et al. 2013
276820.2
Saudi Arabia
2
Likely Pathogenic
Ulna and Fibula, Absence of, with Severe Limb Deficiency
Balwi, 2009;
Maddirevula et al. 2018
276820.3
Saudi Arabia
2
Pathogenic
Ulna and Fibula, Absence of, with Severe Limb Deficiency
Al-Qattan et al. 2009
276820.4.1
Saudi Arabia
2
Pathogenic
Ulna and Fibula, Absence of, with Severe Limb Deficiency
Eyaid et al. 2011
Proband from the large family mentioned ...
276820.4.2
Saudi Arabia
2
Pathogenic
Ulna and Fibula, Absence of, with Severe Limb Deficiency
Eyaid et al. 2011
Relative of 276821.4.1
276820.4.3
Saudi Arabia
2
Pathogenic
Ulna and Fibula, Absence of, with Severe Limb Deficiency
Eyaid et al. 2011
Brother of 276821.4.2
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Contributors
Asha Deepthi: 25.02.2022
Edit History
Asha Deepthi: 24.03.2023
Asha Deepthi: 25.02.2022
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Qatar
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Arab Countries with reported incidence
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