Variant ID: 11-46897459-C-T

NM_002334.3(LRP4):c.3595G>A;(p.Gly1199Ser)

This variant was identified in 4 publications




Publications:


Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

Human Mutation
R Sukenik Halevy, HC Chien, B Heinz, MJ Bamshad, DA Nickerson, , M Kircher, N Ahituv
Publication Date: 2018-06

Variant appearance in text: LRP4: G1199S
PubMed Link: 29524275
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic disorders in beef cattle: a review.

Genes & Genomics
A Ciepłoch, K Rutkowska, J Oprządek, E Poławska
Publication Date: 2017

Variant appearance in text: MEGF7: 3595G>A
PubMed Link: 28458779
Variant Present in the following documents:
  • Main text
View BVdb publication page



Advances in the Molecular Genetics of Non-syndromic Syndactyly.

Current Genomics
H Deng, T Tan
Publication Date: 2015-06

Variant appearance in text: LRP4: G1199S
PubMed Link: 26069458
Variant Present in the following documents:
  • Main text
View BVdb publication page



Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4).

Bmc Genetics
C Drögemüller, T Leeb, B Harlizius, I Tammen, O Distl, M Höltershinken, A Gentile, A Duchesne, A Eggen
Publication Date: 2007-02-23

Variant appearance in text: LRP4: 3595G>A; Gly1199Ser
PubMed Link: 17319939
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000378623.1 c.3595G>A p.Gly1199Ser missense_variant 26/38 -
NM_002334.4 c.3595G>A p.Gly1199Ser missense_variant 26/38 -