NM_000243.3:c.530C>T

HGVS Expressions

  • NG_007871.1:g.7090C>T
  • NM_000243.3:c.530C>T
  • NP_000234.1:p.Thr177Ile
Back to search Result
Genomic Location

chr16:3254538

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

97528

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.2.7Lebanon1PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2005
© CAGS 2024. All rights reserved.