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NM_003829.5:c.1744C>G
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NM_003829.5:c.1744C>G
HGVS Expressions
NG_042810.1:g.91339C>G
NM_003829.5:c.1744C>G
NP_003820.2:p.Leu582Val
NC_000009.12:g.13193226G>A
Associated Genes
Multiple PDZ Domain Protein
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
201275925
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
615219.1
United Arab Emirates
1
Likely Pathogenic
Hydrocephalus, congenital, 2, with or without brain or eye anomalies
Al-Shamsi et al. 2016
Compound heterozygous mutations
615219.2.1
United Arab Emirates
1
Likely Pathogenic
Hydrocephalus, congenital, 2, with or without brain or eye anomalies
Al-Jezawi et al. 2018
Proband
615219.2.2
United Arab Emirates
1
Al-Jezawi et al. 2018
Father of 615219.2.1
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Contributors
Pratibha Nair: 18.06.2020
Edit History
Pratibha Nair: 05.01.2023
Sami Bizzari: 08.12.2022
Pratibha Nair: 21.09.2022
Rahila Mir: 10.02.2022
Asha Deepthi: 03.05.2021
Pratibha Nair: 18.06.2020
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