NM_001378452.1:c.7051C>T

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  2. NM_001378452.1:c.7051C>T

HGVS Expressions

  • NG_016144.2:g.312198C>T
  • NM_001378452.1:c.7051C>T
  • NP_001365381.1:p.Arg2351Ter
  • NC_000003.12:g.4800544C>T

Associated Genes

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

Likely Pathogenic

Variant Type

Substitution

dbSNP

765004428

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606658.2Saudi Arabia2Likely PathogenicSpinocerebellar Ataxia 15Monies et al. 2017 Atypical presentation - recessive mutati...
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Contributors

  • Asha Deepthi: 22.10.2024

Edit History

  • Asha Deepthi: 22.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.