NM_001085427.2:c.263G>A

HGVS Expressions

  • NG_009260.2:g.5812G>A
  • NM_001085427.2:c.263G>A
  • NP_001078896.2:p.Gly88Asp
  • NC_000022.11:g.50627368C>T

Associated Genes

Arylsulfatase A
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

3061

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
250100.12.1Palestine2PathogenicMetachromatic LeukodystrophyHeinisch et al. 1995
250100.12.2Palestine1PathogenicHeinisch et al. 1995 Mother of 250100.12.1
250100.12.3Palestine1PathogenicHeinisch et al. 1995 Father of 250100.12.1
© CAGS 2024. All rights reserved.