LRP6 c.3585G>A ;(p.K1195=)

Variant ID: 12-12291281-C-T

NM_002336.2(LRP6):c.3585G>A;(p.K1195=)

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:

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

American Journal Of Medical Genetics. Part A
Marini, Nicholas J NJ; Asrani, Kripa K; Yang, Wei W; Rine, Jasper J; Shaw, Gary M GM
Publication Date: 2019-07

Variant appearance in text: LRP6: K1195K
PubMed Link: 31063268
Variant Present in the following documents:
  • AJMG-179-1260-s007.xlsx, sheet 1
View BVdb publication page