NM_007077.4:c.c.138+3_138+6del

HGVS Expressions

  • NG_031913.1:g.46228_46231AAGT
  • NM_007077.4:c.c.138+3_138+6del
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Genomic Location

chr14:31066333-31066336

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

234925

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614067.1Lebanon2PathogenicSpastic Paraplegia 52, Autosomal RecessiveNair et al. 2018
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