NM_153816.6:c.1182del

HGVS Expressions

  • NG_047171.1:g.55470del
  • NM_153816.6:c.1182del
  • NP_722523.1:p.Lys395ArgfsTer22
  • NC_000006.12:g.85543687del

Associated Genes

Sorting Nexin 14
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616354.4.1Egypt2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 20Akizu et al. 2015
616354.4.2Egypt2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 20Akizu et al. 2015 Sister of 616354.4.1
616354.4.3Egypt2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 20Akizu et al. 2015 Sister of 616354.4.1
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