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NM_000277.3:c.691T>C
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NM_000277.3:c.691T>C
HGVS Expressions
NG_008690.2:g.108260T>C
NM_000277.3:c.691T>C
NP_000268.1:p.Ser231Pro
NC_000012.12:g.102855151A>G
Associated Genes
Phenylalanine Hydroxylase
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
5030845
Clinvar
102786
Epidemiology in the Arab World
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Yemen
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
261600.34
Yemen
2
Likely Pathogenic
Phenylketonuria
Ben-Rebeh et al. 2012
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Contributors
Sayeeda Hana: 25.05.2021
Edit History
Sayeeda Hana: 25.05.2021
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