NM_001085427.2:c.465+1G>A

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  2. NM_001085427.2:c.465+1G>A

HGVS Expressions

  • NG_009260.2:g.6015G>A
  • NM_001085427.2:c.465+1G>A
  • NP_001078896.2:p.?
  • NC_000022.11:g.50627165C>T

Associated Genes

Arylsulfatase A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

80338815

Clinvar

3051

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
250100.5Palestine2PathogenicMetachromatic LeukodystrophyHeinisch et al. 1995
250100.6Palestine2PathogenicMetachromatic LeukodystrophyHeinisch et al. 1995
250100.7Palestine2PathogenicMetachromatic LeukodystrophyHeinisch et al. 1995
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Contributors

  • Pratibha Nair: 24.04.2018

Edit History

  • Pratibha Nair: 08.11.2022
  • Sami Bizzari: 31.10.2022
  • Pratibha Nair: 08.11.2018
  • Pratibha Nair: 07.11.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.