NM_005199.5:c.320T>G

HGVS Expressions

  • NG_012954.2:g.5990T>G
  • NM_005199.5:c.320T>G
  • NP_005190.4:p.Val107Gly
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Genomic Location

chr2:232540681

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

18340

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
265000.1.1Saudi Arabia2PathogenicMultiple Pterygium Syndrome, Escobar VariantMorgan et al. 2006 Proband. He also had two affected siblin...
265000.1.2Saudi Arabia2PathogenicMultiple Pterygium Syndrome, Escobar VariantMorgan et al. 2006 Double first cousin of 265000.1.1
265000.1.3Saudi Arabia2PathogenicMultiple Pterygium Syndrome, Escobar VariantMorgan et al. 2006 Double first cousin of 265000.1.1, twin ...
265000.1.4Saudi Arabia2PathogenicMultiple Pterygium Syndrome, Escobar VariantMorgan et al. 2006 Double first cousin of 265000.1.1
265000.1.5Saudi Arabia2PathogenicMultiple Pterygium Syndrome, Escobar VariantMorgan et al. 2006 Double first cousin of 265000.1.1, broth...
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