NM_001085427.2:c.827C>T

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  2. NM_001085427.2:c.827C>T

HGVS Expressions

  • NG_009260.2:g.6562C>T
  • NM_001085427.2:c.827C>T
  • NP_001078896.2:p.Thr276Met
  • NC_000022.11:g.50626618G>A

Associated Genes

Arylsulfatase A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

74315472

Clinvar

3075

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
250100.2.1Lebanon2PathogenicMetachromatic LeukodystrophyHarvey et al. 1993 Sister of 250100.2.2 and 250100.2.3
250100.2.2Lebanon2PathogenicMetachromatic LeukodystrophyHarvey et al. 1993
250100.2.3Lebanon2PathogenicMetachromatic LeukodystrophyHarvey et al. 1993
250100.3Lebanon2PathogenicMetachromatic LeukodystrophyHarvey et al. 1993
250100.4.1Lebanon2PathogenicMetachromatic LeukodystrophyHarvey et al. 1993
250100.4.2Lebanon2PathogenicMetachromatic LeukodystrophyHarvey et al. 1993
250100.8.1Palestine2PathogenicMetachromatic LeukodystrophyHeinisch et al. 1995
250100.8.2Palestine1PathogenicHeinisch et al. 1995 Mother of 250100.8.1
250100.8.3Palestine1PathogenicHeinisch et al. 1995 Father of 250100.8.1
250100.13Palestine2PathogenicMetachromatic LeukodystrophyHeinisch et al. 1995
250100.16Lebanon2PathogenicMetachromatic LeukodystrophyNair et al. 2018
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Contributors

  • Pratibha Nair: 24.04.2018

Edit History

  • Sami Bizzari: 05.09.2022
  • Pratibha Nair: 22.04.2020
  • Pratibha Nair: 21.04.2020
  • Pratibha Nair: 08.11.2018
  • Pratibha Nair: 07.11.2018
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© CAGS 2024. All rights reserved.