NM_016148.3:c.1459C>T

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HGVS Expressions

  • NM_016148.3:c.1459C>T
  • NP_057232.2:p.Arg487Ter
  • NC_000019.10:g.50703594G>A

Associated Genes

SH3 and Multiple Ankyrin Repeat Domains 1
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1481983894

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
209850.1United Arab EmiratesPathogenicAutismSaleh et al. 2021 Father with history of delayed speech an...
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Contributors

  • Pratibha Nair: 03.02.2022

Edit History

  • Pratibha Nair: 03.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.