NM_000046.5:c.1079T>C

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  2. NM_000046.5:c.1079T>C

HGVS Expressions

  • NG_007089.1:g.105888T>C
  • NM_000046.5:c.1079T>C
  • NP_000037.2:p.Leu360Pro
  • NC_000005.10:g.78885647A>G

Associated Genes

Arylsulfatase B
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1554079284

Clinvar

559672

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253200.1Saudi Arabia2NALikely PathogenicMucopolysaccharidosis Type VIMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 25.10.2021

Edit History

  • Asha Deepthi: 25.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.