NM_005199.5:c.1249G>C

HGVS Expressions

  • NG_012954.2:g.9889G>C
  • NM_005199.5:c.1249G>C
  • NP_005190.4:p.Glu417Gln
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Genomic Location

chr2:232544580

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
265000.4.1Lebanon2PathogenicMultiple Pterygium Syndrome, Escobar VariantHoffmann et al. 2006 Proband. He also had an affected younger...
265000.4.2Lebanon2PathogenicMultiple Pterygium Syndrome, Escobar VariantHoffmann et al. 2006 Sister of 265000.4.1
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