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NM_002972.3:c.1004T>C
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NM_002972.3:c.1004T>C
HGVS Expressions
NG_041810.1:g.14095T>C
NM_002972.3:c.1004T>C
NP_002963.2:p.Leu335Pro
NC_000022.11:g.50465968A>G
Associated Genes
SET-Binding Factor 1
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
Epidemiology in the Arab World
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All Countries
Lebanon
Syria
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
615284.1
Lebanon; Syria
2
Likely Pathogenic
Charcot-Marie-Tooth Disease, Type 4B3
Romani et al. 2016;
Mégarbané et al. 2010
Has a similarly affected male sibling. B...
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Contributors
Pratibha Nair: 12.07.2021
Edit History
Rahila Mir: 10.02.2022
Pratibha Nair: 12.07.2021
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