NM_001085427.2:c.470C>G

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  2. NM_001085427.2:c.470C>G

HGVS Expressions

  • NM_001085427.2:c.470C>G
  • NP_001078896.2:p.Pro157Arg
  • NC_000022.11:g.50627048G>C

Associated Genes

Arylsulfatase A
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

74315464

Clinvar

3067

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
250100.1Lebanon2PathogenicMetachromatic LeukodystrophyGieselmann et al. 1994
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Contributors

  • Pratibha Nair: 24.04.2018

Edit History

  • Sami Bizzari: 31.10.2022
  • Sami Bizzari: 01.08.2022
  • Pratibha Nair: 07.11.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.