NM_006914.3:c.196C>T

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  2. NM_006914.3:c.196C>T

HGVS Expressions

  • NG_046926.2:g.142398C>T
  • NM_006914.3:c.196C>T
  • NP_008845.2:p.Arg66Ter
  • NC_000009.12:g.74634733C>T

Associated Genes

RAR-Related Orphan Receptor B
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Clinvar Clinical Significance

Risk factor

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1563959514

Clinvar

620651

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618357.1United Arab Emirates1Likely PathogenicEpilepsy, Idiopathic Generalized, Susceptibility to, 15Saleh et al. 2021 Affected cousin. Mother has seizures
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Contributors

  • Pratibha Nair: 21.09.2021

Edit History

  • Pratibha Nair: 21.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.