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
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

Clinvar

215367

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
125853.1Lebanon2Likely BenignType 2 Diabetes MellitusZalloua et al. 2008
125853.2Lebanon2Likely BenignType 2 Diabetes MellitusZalloua et al. 2008
222300.4Lebanon2Likely BenignWolfram Syndrome 1Zalloua et al. 2008
222300.8Lebanon2Likely BenignWolfram Syndrome 1Zalloua et al. 2008
222300.9Lebanon2Likely BenignWolfram Syndrome 1Zalloua et al. 2008
125853.G.1Lebanon6Likely BenignType 2 Diabetes MellitusZalloua et al. 2008 Family with 3 affected individuals
125853.G.2Lebanon6Likely BenignType 2 Diabetes MellitusZalloua et al. 2008 Family with 3 affected individuals
125853.G.3Lebanon4Likely BenignType 2 Diabetes MellitusZalloua et al. 2008 Family with 2 affected individuals
222300.G.2Lebanon4Likely BenignWolfram Syndrome 1Zalloua et al. 2008 Family with 2 affected members
222300.G.4Lebanon4Likely BenignWolfram Syndrome 1Zalloua et al. 2008 Family with 2 affected members
222300.G.7Lebanon4Likely BenignWolfram Syndrome 1Zalloua et al. 2008 Family with 2 affected members
222300.G.8Lebanon4Likely BenignWolfram Syndrome 1Zalloua et al. 2008 Family with 2 affected members
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