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NM_138694.3:c.4870C>T
Home
NM_138694.3:c.4870C>T
HGVS Expressions
NG_008753.1:g.67686C>T
NM_138694.3:c.4870C>T
NP_619639.3:p.Arg1624Trp
NC_000006.12:g.52024940G>A
Associated Genes
PKHD1 Ciliary IPT Domain-Containing Fibrocystin/Polyductin
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic, Uncertain Significance
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
200391019
Clinvar
188369
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
263200.1.1
Saudi Arabia
2
Pathogenic
Polycystic Kidney Disease 4 with or without Polycystic Liver Disease
Al-Hamed et al. 2016
263200.1.2
Saudi Arabia
1
Pathogenic
Al-Hamed et al. 2016
Mother of 263200.1.1
263200.1.3
Saudi Arabia
1
Pathogenic
Al-Hamed et al. 2016
Father of 263200.1.1
263200.2.1
Saudi Arabia
2
Pathogenic
Polycystic Kidney Disease 4 with or without Polycystic Liver Disease
Al-Hamed et al. 2016
263200.2.2
Saudi Arabia
1
Pathogenic
Al-Hamed et al. 2016
Mother of 263200.2.1
263200.2.3
Saudi Arabia
1
Pathogenic
Al-Hamed et al. 2016
Father of 263200.2.1
263200.3.1
Saudi Arabia
2
Pathogenic
Polycystic Kidney Disease 4 with or without Polycystic Liver Disease
Al-Hamed et al. 2016
263200.3.2
Saudi Arabia
1
Pathogenic
Al-Hamed et al. 2016
Mother of 263200.3.1
263200.3.3
Saudi Arabia
1
Pathogenic
Al-Hamed et al. 2016
Father of 263200.3.1
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Contributors
Pratibha Nair: 05.12.2018
Edit History
Sami Bizzari: 12.09.2022
Pratibha Nair: 06.12.2018
Pratibha Nair: 05.12.2018
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