NM_005518.4:c.1124C>T

HGVS Expressions

  • NG_013348.1:g.18443C>G
  • NM_005518.4:c.1124C>T
  • NP_005509.1:p.Ser375Phe
  • NC_000001.11:g.119755490G>A
Back to search Result
Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

Clinvar

292332

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
178500.2.1United Arab Emirates1BenignAlsamri et al. 2020; Alsamri et al. 2021
© CAGS 2024. All rights reserved.