NM_001085427.2:c.292_293delTCinsCT

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HGVS Expressions

  • NG_009260.2:g.5841_5842delTCinsCT
  • NM_001085427.2:c.292_293delTCinsCT
  • NP_001078896.2:p.Ser98Leu
  • NC_000022.11:g.50627338_50627339delinsAG

Associated Genes

Arylsulfatase A
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Indel

dbSNP

199476371

Clinvar

3062

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
250100.10.1Palestine2PathogenicMetachromatic LeukodystrophyHeinisch et al. 1995
250100.10.2Palestine1PathogenicHeinisch et al. 1995 Mother of 250100.10.1
250100.10.3Palestine1PathogenicHeinisch et al. 1995 Father of 250100.10.1
250100.14.1Palestine1PathogenicHeinisch et al. 1995 Mother of child with Metachromatic Leuko...
250100.14.2Palestine1PathogenicHeinisch et al. 1995 Father of child with Metachromatic Leuko...
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Contributors

  • Pratibha Nair: 24.04.2018

Edit History

  • Pratibha Nair: 12.10.2022
  • Sayeeda Hana: 04.10.2020
  • Sayeeda Hana: 17.09.2020
  • Pratibha Nair: 11.12.2018
  • Pratibha Nair: 08.11.2018
  • Pratibha Nair: 07.11.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.