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NM_000053.3:c.4195del
Home
NM_000053.3:c.4195del
HGVS Expressions
NG_008806.1:g.81536del
NM_000053.3:c.4195del
NP_000044.2:p.Gln1399ArgfsTer6
NC_000013.11:g.51934961del
Associated Genes
ATPase, Cu(2+)-Transporting, Beta Polypeptide
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
dbSNP
886041336
Clinvar
280040
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
277900.G.18
Saudi Arabia
2
Likely Pathogenic
Majumdar et al. 2000
Four patients with Wilson Disease
277900.G.19.1
Saudi Arabia
32
Likely Pathogenic
Wilson Disease
Majumdar et al. 2003
16 patients with Wilson Disease
277900.G.19.2
Saudi Arabia
32
Likely Pathogenic
Majumdar et al. 2003
32 parents and 15 siblings of patients w...
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Contributors
Pratibha Nair: 13.06.2018
Edit History
Pratibha Nair: 31.10.2022
Pratibha Nair: 12.10.2022
Rahila Mir: 14.02.2022
Pratibha Nair: 31.12.2018
Pratibha Nair: 27.12.2018
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