NM_015166.3:c.263G>T

HGVS Expressions

  • NG_009162.1:g.7842G>T
  • NM_015166.3:c.263G>T
  • NP_631941.1:p.Gly88Val
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Genomic Location

chr22:50083089

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604004.1.1Lebanon2Likely PathogenicMegalencephalic Leukoencephalopathy with Subcortical Cysts 1Koussa et al, 2005
604004.1.2Lebanon2Likely PathogenicMegalencephalic Leukoencephalopathy with Subcortical Cysts 1Koussa et al, 2005 Sibling of 604004.1.1
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