NM_021625.5:c.2396C>T

  1. Home
  2. NM_021625.5:c.2396C>T

HGVS Expressions

  • NG_017090.1:g.54030C>T
  • NM_021625.5:c.2396C>T
  • NP_671737.1:p.Pro739Arg
  • NC_000012.12:g.109784378G>A

Associated Genes

Transient Receptor Potential Cation Channel, Subfamily V, Member 4
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

121912637

Clinvar

4998

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
184095.1Lebanon1Likely PathogenicSpondyloepimetaphyseal Dysplasia, Maroteaux TypeMegarbane et al. 2004; Nishimura et al. 2010
Download Table

Contributors

  • Pratibha Nair: 07.07.2021

Edit History

  • Pratibha Nair: 07.07.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.