LRP5 c.4480T>C ;(p.Y1494H)

Variant ID: 11-68207376-T-C

NM_002335.2(LRP5):c.4480T>C;(p.Y1494H)

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:

Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine
Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA
Publication Date: 2019-09

Variant appearance in text: LRP5: 4480T>C; Tyr1494His; rs760613534
PubMed Link: 31397093
Variant Present in the following documents:
  • Main text
  • MGG3-7-e931.pdf
View BVdb publication page