NM_000487.6:c.433C>G

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  2. NM_000487.6:c.433C>G

HGVS Expressions

  • NG_009260.2:g.5982C>G
  • NM_000487.6:c.433C>G
  • NP_000478.3:p.Arg145Gly

Associated Genes

Arylsulfatase A
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Genomic Location

chr22:50627198

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

199476373

Clinvar

68133

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
250100.17LebanonPathogenicMetachromatic LeukodystrophyNair et al. 2018
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Contributors

  • Pratibha Nair: 22.04.2020

Edit History

  • Sami Bizzari: 06.06.2021
  • Pratibha Nair: 22.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.