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NM_198525.3:c.3179A>G
Home
NM_198525.3:c.3179A>G
HGVS Expressions
NG_030338.1:g.30026A>G
NM_198525.3:c.3179A>G
NP_940927.2:p.Asn1060Ser
Associated Genes
Kinesin Family Member 7
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Genomic Location
chr15:89630426
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
886039282
Clinvar
264771
Epidemiology in the Arab World
View Map
Oman
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
607131.1.1
Oman
2
Pathogenic
Al-Gazali-Bakalinova Syndrome
Al-Gazali et al. 1998;
Bayoumi et al. 2001;
Eyre et al. 2002;
Ali et al. 2012
607131.1.2
Oman
2
Pathogenic
Al-Gazali-Bakalinova Syndrome
Al-Gazali et al. 1998;
Bayoumi et al. 2001;
Eyre et al. 2002;
Ali et al. 2012
Sibling of 607131.1.1
607131.1.3
Oman
2
Pathogenic
Al-Gazali-Bakalinova Syndrome
Al-Gazali et al. 1998;
Bayoumi et al. 2001;
Eyre et al. 2002;
Ali et al. 2012
Sibling of 607131.1.1
607131.1.4
Oman
2
Pathogenic
Al-Gazali-Bakalinova Syndrome
Al-Gazali et al. 1998;
Bayoumi et al. 2001;
Eyre et al. 2002;
Ali et al. 2012
Sibling of 607131.1.1
607131.1.5
Oman
2
Pathogenic
Al-Gazali-Bakalinova Syndrome
Al-Gazali et al. 1998;
Bayoumi et al. 2001;
Eyre et al. 2002;
Ali et al. 2012
First cousin of 607131.1.1
607131.1.6
Oman
1
Pathogenic
Ali et al. 2012
Father of 607131.1.1
607131.1.7
Oman
1
Pathogenic
Ali et al. 2012
Mother of 607131.1.1
Download Table
Contributors
Pratibha Nair: 09.08.2020
Edit History
Pratibha Nair: 09.08.2020
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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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