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NM_032504.1:c.8525G>A
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NM_032504.1:c.8525G>A
HGVS Expressions
NG_051361.1:g.209330G>A
NM_032504.1:c.8525G>A
NP_115893.1:p.Arg2842Gln
NC_000002.12:g.209976254G>A
Associated Genes
UNC80 Homolog, NALCN Channel Complex Subunit
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
1255262851
Epidemiology in the Arab World
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All Countries
Palestine
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
616801.8.1
Palestine; United Arab Em...
2
Likely Pathogenic
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2
Obeid et al. 2018
Proband (Emirati of Palestinian origin)
616801.8.2
Palestine; United Arab Em...
1
Obeid et al. 2018
Father of 616801.8.1 (Emirati of Palesti...
616801.8.3
Palestine; United Arab Em...
1
Obeid et al. 2018
Mother of 616801.8.1 (Emirati of Palesti...
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Contributors
Asha Deepthi: 04.05.2021
Edit History
Rahila Mir: 10.02.2022
Asha Deepthi: 04.05.2021
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Arab Countries with reported incidence
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