NM_001034850.3:c.926C>G

HGVS Expressions

  • NG_016644.2:g.144274C>G
  • NM_001034850.3:c.926C>G
  • NP_001030022.1:p.Ser309Ter
  • NC_000005.10:g.16477736G>C
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

328

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613115.1.1Saudi Arabia2PathogenicNeuropathy, Hereditary Sensory and Autonomic, Type IIBKurth et al. 2009
613115.1.2Saudi Arabia2PathogenicNeuropathy, Hereditary Sensory and Autonomic, Type IIBKurth et al. 2009 Sibling of 613115.1.1
613115.1.3Saudi Arabia2PathogenicNeuropathy, Hereditary Sensory and Autonomic, Type IIBKurth et al. 2009 Sibling of 613115.1.1
613115.1.4Saudi Arabia2PathogenicNeuropathy, Hereditary Sensory and Autonomic, Type IIBKurth et al. 2009 Sibling of 613115.1.1
613115.1.G.1Saudi Arabia5Kurth et al. 2009 Parents and 3 siblings of 613115.1.1
© CAGS 2024. All rights reserved.