LRP1 c.5385G>A ;(p.M1795I)

Variant ID: 12-57574261-G-A

NM_002332.2(LRP1):c.5385G>A;(p.M1795I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Exome sequencing in 51 early onset non-familial CRC cases.

Molecular Genetics & Genomic Medicine
Thutkawkorapin, Jessada J; Lindblom, Annika A; Tham, Emma E
Publication Date: 2019-05

Variant appearance in text: LRP1: M1795I
PubMed Link: 30809968
Variant Present in the following documents:
  • MGG3-7-e605-s002.xlsx, sheet 1
View BVdb publication page



Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease.

Behavioral And Brain Functions : Bbf
Jouan, Loubna L; Girard, Simon L SL; Dobrzeniecka, Sylvia S; Ambalavanan, Amirthagowri A; Krebs, Marie-Odile MO; Joober, Ridha R; Gauthier, Julie J; Dion, Patrick A PA; Rouleau, Guy A GA
Publication Date: 2013-02-20

Variant appearance in text: LRP1: M1795I
PubMed Link: 23425335
Variant Present in the following documents:
  • Main text
  • 1744-9081-9-9.pdf
View BVdb publication page