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NM_183050.4:c.637G>T
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NM_183050.4:c.637G>T
HGVS Expressions
NG_009775.2:g.69659G>T
NM_183050.4:c.637G>T
NP_898871.1:p.Val213Phe
NC_000006.12:g.80171285G>T
Associated Genes
Branched-Chain Keto Acid Dehydrogenase E1, Beta Polypeptide
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Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
994415333
Clinvar
390609
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
248600.8
United Arab Emirates
2
Likely Pathogenic
Maple Syrup Urine Disease
Saleh et al. 2021
Cousins affected with global development...
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Contributors
Pratibha Nair: 11.01.2022
Edit History
Pratibha Nair: 12.01.2023
Pratibha Nair: 11.01.2022
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