CCT5 c.1591G>A ;(p.D531N)

Variant ID: 5-10264860-G-A

NM_012073.3(CCT5):c.1591G>A;(p.D531N)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

European Journal Of Human Genetics : Ejhg
Morais, Sara S; Raymond, Laure L; Mairey, Mathilde M; Coutinho, Paula P; Brandão, Eva E; Ribeiro, Paula P; Loureiro, José Leal JL; Sequeiros, Jorge J; Brice, Alexis A; Alonso, Isabel I; Stevanin, Giovanni G
Publication Date: 2017-11

Variant appearance in text: CCT5: Asp531Asn
PubMed Link: 28832565
Variant Present in the following documents:
  • ejhg2017124a.pdf
View BVdb publication page