NM_001085427.2:c.1114C>T

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  2. NM_001085427.2:c.1114C>T

HGVS Expressions

  • NG_009260.2:g.6132C>G
  • NM_001085427.2:c.1114C>T
  • NP_001078896.2:p.Arg372Trp
  • NC_000022.11:g.50625675G>A

Associated Genes

Arylsulfatase A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

74315476

Clinvar

3081

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
250100.9.1Palestine2PathogenicMetachromatic LeukodystrophyHeinisch et al. 1995
250100.9.2Palestine1PathogenicHeinisch et al. 1995 Mother of 250100.9.1
250100.9.3Palestine1PathogenicHeinisch et al. 1995
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Contributors

  • Pratibha Nair: 24.04.2018

Edit History

  • Sami Bizzari: 31.10.2022
  • Sami Bizzari: 05.09.2022
  • Pratibha Nair: 08.11.2018
  • Pratibha Nair: 07.11.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.