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ALK c.2041+10690G>C
Variant ID: 2-29487275-C-G
NM_004304.4(
ALK
):c.2041+10690G>C
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:
Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.
The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04
Variant appearance in text: rs1358514
PubMed Link:
30214008
Variant Present in the following documents:
NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page
Genome-wide linkage analysis to identify genetic modifiers of ALK mutation penetrance in familial neuroblastoma.
Human Heredity
Devoto, Marcella M; Specchia, Claudia C; Laudenslager, Marci M; Longo, Luca L; Hakonarson, Hakon H; Maris, John J; Mossé, Yael Y
Publication Date: 2011
Variant appearance in text: rs1358514
PubMed Link:
21734404
Variant Present in the following documents:
Main text
View BVdb publication page