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NM_213606.4:c.404C>T
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NM_213606.4:c.404C>T
HGVS Expressions
NG_021179.1:g.99405C>T
NM_213606.4:c.404C>T
NP_998771.3:p.Ala135Val
NC_000010.11:g.89441152G>A
Associated Genes
Solute Carrier Family 16 (Monocarboxylic Acid Transporter), Member 12
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Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
786205460
Clinvar
191007
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
612018.1
Saudi Arabia
1
Pathogenic
Cataract 47
Patel et al. 2017
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Contributors
Sayeeda Hana: 16.03.2023
Edit History
Sayeeda Hana: 16.03.2023
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