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NM_001002235.2:c.1177C>T
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NM_001002235.2:c.1177C>T
HGVS Expressions
NG_008290.1:g.17164C>T
NM_001002235.2:c.1177C>T
NP_001002235.1:p.Pro393Ser
NC_000014.9:g.94378529G>A
Associated Genes
SERPIN Peptidase Inhibitor, Clade A, Member 1
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic, Uncertain Significance
Variant Type
Substitution
dbSNP
61761869
Clinvar
289135
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
107400.1
United Arab Emirates
1
Alsamri et al. 2021
Article remark: Individual screened for ...
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Contributors
Sami Bizzari: 14.06.2022
Edit History
Pratibha Nair: 11.01.2023
Sami Bizzari: 18.07.2022
Sami Bizzari: 14.06.2022
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