NM_003611.3:c.1193_1196del

HGVS Expressions

  • NG_008872.1:g.25498AATC[1]
  • NM_003611.3:c.1193_1196del
  • NP_003602.1:p.Gln398LeufsTer2
  • NC_000023.11:g.13755210AATC[1]
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

41065

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
311200.1Saudi Arabia1NAPathogenicOrofaciodigital Syndrome IMaddirevula et al. 2018 Patient's parents are from the same trib...
© CAGS 2024. All rights reserved.