NM_004928.3:c.103del

HGVS Expressions

  • NG_032952.1:g.8605del
  • NM_004928.3:c.103del
  • NP_001258369.1:p.Ile35PhefsTer10
  • NC_000021.9:g.44335798del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

428575

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
602271.2Saudi Arabia2NALikely PathogenicSpondylometaphyseal Dysplasia, AxialMaddirevula et al. 2018
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