NM_032578.4:c.3335C>T

  1. Home
  2. NM_032578.4:c.3335C>T

HGVS Expressions

  • NG_032118.1:g.98301C>T
  • NM_032578.4:c.3335C>T
  • NP_001243196.1:p.Pro1112Leu

Associated Genes

Myopalladin
Back to search Result
Genomic Location

chr10:68199417

Clinvar Clinical Significance

Benign, Likely Benign, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

71534278

Clinvar

31791

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615248.1Lebanon1PathogenicCardiomyopathy, Dilated, 1KKRefaat et al. 2019 Similarly affected brother
Download Table

Contributors

  • Pratibha Nair: 08.10.2020

Edit History

  • Pratibha Nair: 11.10.2020
  • Pratibha Nair: 08.10.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.