COL3A1 c.455C>T ;(p.S152F)

Variant ID: 2-189851792-C-T

NM_000090.3(COL3A1):c.455C>T;(p.S152F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia.

Frontiers In Genetics
Chang, Xiao X; Lima, Leandro de Araujo LA; Liu, Yichuan Y; Li, Jin J; Li, Qingqin Q; Sleiman, Patrick M A PMA; Hakonarson, Hakon H
Publication Date: 2018

Variant appearance in text: COL3A1: S152F
PubMed Link: 30323833
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.

Nature Genetics
Xu, Bin B; Ionita-Laza, Iuliana I; Roos, J Louw JL; Boone, Braden B; Woodrick, Scarlet S; Sun, Yan Y; Levy, Shawn S; Gogos, Joseph A JA; Karayiorgou, Maria M
Publication Date: 2012-12

Variant appearance in text: COL3A1: 455C>T; S152F
PubMed Link: 23042115
Variant Present in the following documents:
  • NIHMS410678-supplement-5.xls, sheet 1
View BVdb publication page



Exome sequencing supports a de novo mutational paradigm for schizophrenia.

Nature Genetics
Xu, Bin B; Roos, J Louw JL; Dexheimer, Phillip P; Boone, Braden B; Plummer, Brooks B; Levy, Shawn S; Gogos, Joseph A JA; Karayiorgou, Maria M
Publication Date: 2011-08-07

Variant appearance in text: COL3A1: Ser152Phe
PubMed Link: 21822266
Variant Present in the following documents:
  • Main text
View BVdb publication page