BBS7 c.1253T>A ;(p.L418H)

Variant ID: 4-122765134-A-T

NM_176824.2(BBS7):c.1253T>A;(p.L418H)

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:

The genetic landscape of 5T models for multiple myeloma.

Scientific Reports
Maes, Ken K; Boeckx, Bram B; Vlummens, Philip P; De Veirman, Kim K; Menu, Eline E; Vanderkerken, Karin K; Lambrechts, Diether D; De Bruyne, Elke E
Publication Date: 2018-10-09

Variant appearance in text: BBS7: L418H
PubMed Link: 30301958
Variant Present in the following documents:
  • 41598_2018_33396_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page