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NM_139278.4:c.422T>A
Home
NM_139278.4:c.422T>A
HGVS Expressions
NM_139278.4:c.422T>A
NP_644807.1:p.Leu141His
NC_000008.11:g.22154142A>T
Associated Genes
Leucine-Rich Gene, Glioma-Inactivated, 3
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
2131796689
Clinvar
1699930
Epidemiology in the Arab World
View Map
Iraq
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
620007.5.1
Iraq
2
NA
Likely Pathogenic
Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects
Marafi et al. 2022b
Index patient from 'family 6' in the pub...
620007.5.2
Iraq
2
NA
Likely Pathogenic
Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects
Marafi et al. 2022b
Brother of 620007.5.1
620007.5.3
Iraq
2
NA
Likely Pathogenic
Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects
Marafi et al. 2022b
Brother of 620007.5.1
620007.5.G
Iraq
5
NA
Marafi et al. 2022b
Relatives of 620007.5.1 (parents + three...
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Contributors
Asha Deepthi: 16.03.2023
Edit History
Asha Deepthi: 17.03.2023
Asha Deepthi: 16.03.2023
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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