NM_000171.4:c.994G>A

HGVS Expressions

  • NG_011764.1:g.100851G>A
  • NM_000171.4:c.994G>A
  • NP_000162.2:p.Val332Ile
  • NC_000005.10:g.151828986C>T
Back to search Result
Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

570499

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
149400.2Syria1Likely PathogenicHyperekplexia, Hereditary 1Wadi et al, 2018
© CAGS 2024. All rights reserved.