NM_005199.5:c.807dup

HGVS Expressions

  • NG_012954.2:g.8585dup
  • NM_005199.5:c.807dup
  • NP_005190.4:p.Gly270fs
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Genomic Location

chr2:232543276

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
265000.3.1Lebanon2PathogenicMultiple Pterygium Syndrome, Escobar VariantHoffmann et al. 2006 Proband
265000.3.2Lebanon2PathogenicMultiple Pterygium Syndrome, Escobar VariantHoffmann et al. 2006 Brother of 265000.3.1
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