NM_000321.2:c.2247_2248insAA

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HGVS Expressions

  • NG_009009.1:g.166287_166288insAA
  • NP_000312.2:p.Asp750fs

Associated Genes

RB Transcriptional Corepressor 1
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Genomic Location

chr13:48465033-48465034

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Insertion

dbSNP

1555294600

Clinvar

527930

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
180200.1Lebanon1PathogenicRetinoblastomaNair et al. 2018
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Contributors

  • Pratibha Nair: 29.04.2020

Edit History

  • Sayeeda Hana: 04.10.2020
  • Pratibha Nair: 29.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.