NM_001242.4:c.158G>A

HGVS Expressions

  • NG_031995.1:g.5561G>A
  • NM_001242.4:c.158G>A
  • NP_001233.1:p.Cys53Tyr

Associated Genes

CD27 Antigen
Back to search Result
Genomic Location

chr12:6445445

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

40890

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615122.1.1Lebanon2PathogenicLymphoproliferative Syndrome 2Salzer et al, 2013
615122.1.2Lebanon2PathogenicLymphoproliferative Syndrome 2Salzer et al, 2013 Sibling of 615122.1.1
615122.2.1Lebanon2PathogenicLymphoproliferative Syndrome 2Salzer et al, 2013
615122.2.2Lebanon2PathogenicLymphoproliferative Syndrome 2Salzer et al, 2013 Sibling of 615122.2.1; Decesaed
615122.2.3Lebanon2PathogenicLymphoproliferative Syndrome 2Salzer et al, 2013 Sibling of 615122.2.1; Decesaed
615122.3Lebanon2PathogenicLymphoproliferative Syndrome 2Nair et al. 2018
© CAGS 2024. All rights reserved.