NM_007317.3:c.443C>T

  1. Home
  2. NM_007317.3:c.443C>T

HGVS Expressions

  • NG_032055.1:g.12929C>T
  • NM_007317.3:c.443C>T
  • NP_015556.1:p.Pro148Leu
  • NC_000016.10:g.29798641C>T

Associated Genes

Kinesin Family Member 22
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

193922921

Clinvar

30334

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
603546.2Algeria1Likely PathogenicSpondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2Ranza et al. 2017 de novo mutation
Download Table

Contributors

  • Pratibha Nair: 05.07.2022

Edit History

  • Pratibha Nair: 05.07.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.