Bibliome.ai browser hg19
Search
About
Stats
FAQ
BACE2 c.312+6315C>T
Variant ID: 21-42546817-C-T
NM_012105.4(
BACE2
):c.312+6315C>T
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: rs766850
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Genome-wide SNP typing reveals signatures of population history.
Genomics
Hughes, Austin L AL; Welch, Robert R; Puri, Vinita V; Matthews, Casey C; Haque, Kashif K; Chanock, Stephen J SJ; Yeager, Meredith M
Publication Date: 2008-07
Variant appearance in text: rs766850
PubMed Link:
18485661
Variant Present in the following documents:
Main text
View BVdb publication page