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NM_002529.4:c.253C>A
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NM_002529.4:c.253C>A
HGVS Expressions
NG_007493.1:g.53645C>A
NM_002529.4:c.253C>A
NP_002520.2:p.Arg85Ser
NC_000001.11:g.156864394C>A
Associated Genes
Neurotrophic Tyrosine Kinase, Receptor, Type 1
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Clinvar Clinical Significance
Likely Pathogenic, Uncertain Significance
CTGA Clinical Significance
Likely Benign
Variant Type
Substitution
dbSNP
543320028
Clinvar
584593
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
256800.3.1
United Arab Emirates
2
NA
Likely Benign
Mardy et al. 2001;
Sztriha et al. 2001;
Mardy et al. 1999
Patient from 'family KI-102' in Mardy et...
256800.3.2
United Arab Emirates
1
NA
Mardy et al. 1999
Father of 256800.3.1
256800.3.3
United Arab Emirates
1
NA
Mardy et al. 1999
Mother of 256800.3.1
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Contributors
Asha Deepthi: 05.08.2022
Edit History
Pratibha Nair: 20.02.2023
Asha Deepthi: 11.08.2022
Asha Deepthi: 05.08.2022
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