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NM_006005.3:c.2119G>A
Home
NM_006005.3:c.2119G>A
HGVS Expressions
NG_011700.1:g.37065G>A
NM_006005.3:c.2119G>A
NP_005996.2:p.Val707Ile
NC_000004.12:g.6301914G>A
Associated Genes
Wolframin ER Transmembrane Glycoprotein
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Clinvar Clinical Significance
Likely Benign, Uncertain Significance
CTGA Clinical Significance
Likely Benign
Variant Type
Substitution
dbSNP
71524377
Clinvar
215367
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
125853.1
Lebanon
2
Likely Benign
Type 2 Diabetes Mellitus
Zalloua et al. 2008
125853.2
Lebanon
2
Likely Benign
Type 2 Diabetes Mellitus
Zalloua et al. 2008
222300.4
Lebanon
2
Likely Benign
Wolfram Syndrome 1
Zalloua et al. 2008
222300.8
Lebanon
2
Likely Benign
Wolfram Syndrome 1
Zalloua et al. 2008
222300.9
Lebanon
2
Likely Benign
Wolfram Syndrome 1
Zalloua et al. 2008
125853.G.1
Lebanon
6
Likely Benign
Type 2 Diabetes Mellitus
Zalloua et al. 2008
Family with 3 affected individuals
125853.G.2
Lebanon
6
Likely Benign
Type 2 Diabetes Mellitus
Zalloua et al. 2008
Family with 3 affected individuals
125853.G.3
Lebanon
4
Likely Benign
Type 2 Diabetes Mellitus
Zalloua et al. 2008
Family with 2 affected individuals
222300.G.2
Lebanon
4
Likely Benign
Wolfram Syndrome 1
Zalloua et al. 2008
Family with 2 affected members
222300.G.4
Lebanon
4
Likely Benign
Wolfram Syndrome 1
Zalloua et al. 2008
Family with 2 affected members
222300.G.7
Lebanon
4
Likely Benign
Wolfram Syndrome 1
Zalloua et al. 2008
Family with 2 affected members
222300.G.8
Lebanon
4
Likely Benign
Wolfram Syndrome 1
Zalloua et al. 2008
Family with 2 affected members
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Contributors
Pratibha Nair: 13.04.2020
Edit History
Pratibha Nair: 22.11.2022
Pratibha Nair: 14.04.2020
Pratibha Nair: 13.04.2020
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Arab Countries with reported incidence
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