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NM_002506.3:c.680_682delinsA
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NM_002506.3:c.680_682delinsA
HGVS Expressions
NG_007944.1:g.57121_57123delinsA
NM_002506.3:c.680_682delinsA
NC_000001.11:g.115286114_115286116delinsT
Associated Genes
Nerve Growth Factor
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Clinvar Clinical Significance
Pathogenic, Uncertain Significance
CTGA Clinical Significance
Pathogenic
Variant Type
Indel
dbSNP
2101018240
Clinvar
29802
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
608654.G.1
United Arab Emirates
10
Pathogenic
Neuropathy, Hereditary Sensory and Autonomic, Type V
Carvalho et al. 2011;
Saleh et al. 2021
Bedouin family with 5 affected siblings;...
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Contributors
Pratibha Nair: 05.08.2020
Edit History
Sami Bizzari: 03.02.2023
Pratibha Nair: 17.01.2023
Sami Bizzari: 17.01.2023
Pratibha Nair: 12.01.2023
Pratibha Nair: 28.11.2022
Pratibha Nair: 23.08.2022
Sayeeda Hana: 05.10.2020
Pratibha Nair: 05.08.2020
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