NM_004713.6:c.2608C>T

HGVS Expressions

  • NG_051075.1:g.62402C>T
  • NM_004713.6:c.2608C>T
  • NP_004704.3:p.Arg870Ter
  • NC_000014.9:g.49795802G>A
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

986400

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619099.1.1Syria2NAPathogenicIntellectual Developmental Disorder with Speech Delay and Axonal Peripheral NeuropathyMartin et al. 2020 Patient from 'family AUS1' in the public...
619099.1.2Syria1NAMartin et al. 2020 Father of 619099.1.1
619099.1.3Syria1NAMartin et al. 2020 Mother of 619099.1.1
© CAGS 2022. All rights reserved.