NM_000046.5:c.475C>T

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HGVS Expressions

  • NG_007089.1:g.22505C>T
  • NM_000046.5:c.475C>T
  • NP_000037.2:p.Arg159Cys
  • NC_000005.10:g.78969030G>A

Associated Genes

Arylsulfatase B
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

202134230

Clinvar

1195895

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601067.2United Arab Emirates2NALikely BenignAl Dhahouri et al. 2021
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Contributors

  • Asha Deepthi: 23.05.2022

Edit History

  • Sami Bizzari: 20.02.2023
  • Asha Deepthi: 23.05.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.