NM_175733.4:c.1471C>T

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HGVS Expressions

  • NM_175733.4:c.1471C>T
  • NP_783860.1:p.Arg491Ter
  • NC_000011.10:g.7466795C>T

Associated Genes

Synaptotagmin 9
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

147851702

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
180090.1Saudi Arabia1Uncertain SignificanceMonies et al. 2017 This patient has a dual diagnosis of ret...
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Contributors

  • Asha Deepthi: 09.10.2024

Edit History

  • Asha Deepthi: 09.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.