NM_001849.4:c.1459-63G>A

  1. Home
  2. NM_001849.4:c.1459-63G>A

HGVS Expressions

  • NG_008675.1:g.28375G>A
  • NM_001849.4:c.1459-63G>A
  • NP_001840.3:p.?
  • NC_000021.9:g.46121493G>A

Associated Genes

Collagen, Type VI, Alpha-2
Back to search Result
Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

914794771

Clinvar

1678765

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
620727.G.1Saudi Arabia6Uncertain SignificanceUllrich congenital muscular dystrophy 1BAlazami et al, 2016 3 patients - proband and her cousins
Download Table

Contributors

  • Asha Deepthi: 19.07.2024

Edit History

  • Asha Deepthi: 19.09.2024
  • Asha Deepthi: 19.07.2024
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.