Bibliome.ai browser hg19
Search
About
Stats
FAQ
ECE1 c.493+6075G>A
Variant ID: 1-21593117-C-T
NM_001397.2(
ECE1
):c.493+6075G>A
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: rs212540
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Identification of novel alleles associated with insulin resistance in childhood obesity using pooled-DNA genome-wide association study approach.
International Journal Of Obesity (2005)
Kotnik, P P; Knapič, E E; Kokošar, J J; Kovač, J J; Jerala, R R; Battelino, T T; Horvat, S S
Publication Date: 2018-04
Variant appearance in text: rs212540
PubMed Link:
29188820
Variant Present in the following documents:
Main text
ijo2017293a.pdf
View BVdb publication page