NM_001378615.1:c.3364C>T

HGVS Expressions

  • NG_013035.1:g.102887C>T
  • NM_001378615.1:c.3364C>T
  • NP_001365544.1:p.Pro1122Ser
  • NC_000004.12:g.15567752C>T
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

743

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612285.1Saudi Arabia2NALikely PathogenicJoubert Syndrome 9Maddirevula et al. 2018
612285.2Saudi Arabia2NALikely PathogenicJoubert Syndrome 9Maddirevula et al. 2018
© CAGS 2024. All rights reserved.