NM_078480.3:c.24+1G>C

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HGVS Expressions

  • NG_033879.1:g.5108G>C
  • NM_078480.3:c.24+1G>C
  • NC_000008.11:g.143829279C>G

Associated Genes

Poly-U-Binding Splicing Factor, 60-Kd
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1064795388

Clinvar

599204

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615583.1Saudi Arabia2Likely PathogenicVerheij SyndromeMonies et al. 2019 Father is similarly affected
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Contributors

  • Pratibha Nair: 21.11.2023

Edit History

  • Pratibha Nair: 21.11.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.