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NM_002529.4:c.850+1G>A
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NM_002529.4:c.850+1G>A
HGVS Expressions
NG_007493.1:g.61007G>A
NM_002529.4:c.850+1G>A
NC_000001.11:g.156871756G>A
Associated Genes
Neurotrophic Tyrosine Kinase, Receptor, Type 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
1647569895
Clinvar
1457786
Epidemiology in the Arab World
View Map
Kuwait
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
256800.5.1
Kuwait
2
NA
Pathogenic
Insensitivity to Pain, Congenital, with Anhidrosis
Mardy et al. 1999
Patient from 'family KI-105' in the publ...
256800.5.2
Kuwait
2
NA
Pathogenic
Insensitivity to Pain, Congenital, with Anhidrosis
Mardy et al. 1999
Sister of 256800.5.1
256800.5.G
Kuwait
3
NA
Mardy et al. 1999
Relatives of 256800.5.1 & 256800.5.2 (pa...
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Contributors
Asha Deepthi: 05.08.2022
Edit History
Asha Deepthi: 05.08.2022
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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