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NM_152384.3:c.425T>A
Home
NM_152384.3:c.425T>A
HGVS Expressions
NG_011567.1:g.18417T>A
NM_152384.3:c.425T>A
NP_689597.1:p.Leu142Ter
NC_000002.12:g.169492912T>A
Associated Genes
BBS5 Gene
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
1574339529
Clinvar
6158
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
615983.2.1
Saudi Arabia
2
NA
Likely Pathogenic
Bardet-Biedl syndrome 5
Li et al. 2004
Patient from Family 'KK63' in the public...
615983.2.2
Saudi Arabia
2
NA
Likely Pathogenic
Bardet-Biedl syndrome 5
Li et al. 2004
Brother of 615983.2.1
615983.2.3
Saudi Arabia
1
NA
Li et al. 2004
Sister of 615983.2.1
615983.2.4
Saudi Arabia
1
NA
Li et al. 2004
Father of 615983.2.1
615983.2.5
Saudi Arabia
1
NA
Li et al. 2004
Mother of 615983.2.1
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Contributors
Edit History
Asha Deepthi: 17.03.2021
Asha Deepthi: 23.04.2020
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
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Jordan
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Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
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Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
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Non-Arab Countries
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