NM_001378452.1:c.3830T>A

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  2. NM_001378452.1:c.3830T>A

HGVS Expressions

  • NM_001378452.1:c.3830T>A
  • NP_001365381.1:p.Ile1277Asn
  • NC_000003.12:g.4691145T>A

Associated Genes

Inositol 1,4,5-Triphosphate Receptor, Type 1
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

773030719

Clinvar

447586

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606658.1United Arab Emirates1Likely PathogenicSpinocerebellar Ataxia 15Al-Shamsi et al. 2016
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Contributors

  • Pratibha Nair: 12.07.2020

Edit History

  • Sayeeda Hana: 27.11.2022
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 12.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.