NM_004273.5:c.1083_1090delinsCGGCA

HGVS Expressions

  • NG_012635.1:g.48753_48760delinsCGGCA
  • NM_004273.5:c.1083_1090delinsCGGCA
  • NP_004264.2:p.Trp361_Gly364delinsCysGlySer
  • NC_000010.11:g.72008114_72008121delinsCGGCA
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CTGA Clinical Significance

Pathogenic

Variant Type

Indel

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143095.3.13Lebanon1PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsUnger et al. 2010
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