NM_005199.5:c.13C>T

HGVS Expressions

  • NG_012954.2:g.5069C>T
  • NM_005199.5:c.13C>T
  • NP_005190.4:p.Gln5Ter
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Genomic Location

chr2:232539760

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

18336

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
265000.2.1Oman2PathogenicMultiple Pterygium Syndrome, Escobar VariantRajab et al. 2005; Hoffmann et al. 2006 Proband
265000.2.2Oman2PathogenicMultiple Pterygium Syndrome, Escobar VariantRajab et al. 2005; Hoffmann et al. 2006 Brother of 265000.2.1
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