NM_152468.5:c.917A>T

HGVS Expressions

  • NG_007881.1:g.8717A>T
  • NP_689681.2:p.Asn306Ile
Back to search Result
Genomic Location

chr17:78134494

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

7208422

Clinvar

403548

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
247100.9Lebanon1Likely PathogenicEpidermodysplasia Verruciformis, Susceptibility to, 2O'Blenes et al. 2015
© CAGS 2024. All rights reserved.