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ATR c.5288+248T>C
Variant ID: 3-142221956-A-G
NM_001184.3(
ATR
):c.5288+248T>C
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: ATR: 5288+248T>C; rs9856772
PubMed Link:
30319441
Variant Present in the following documents:
Table_7.xlsx, sheet 1
View BVdb publication page
Association between common variation in 120 candidate genes and breast cancer risk.
Plos Genetics
Pharoah, Paul D P PD; Tyrer, Jonathan J; Dunning, Alison M AM; Easton, Douglas F DF; Ponder, Bruce A J BA; ,
Publication Date: 2007-03-16
Variant appearance in text: rs9856772
PubMed Link:
17367212
Variant Present in the following documents:
View BVdb publication page
Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.
Bmc Cancer
Durocher, Francine F; Labrie, Yvan Y; Soucy, Penny P; Sinilnikova, Olga O; Labuda, Damian D; Bessette, Paul P; Chiquette, Jocelyne J; Laframboise, Rachel R; Lépine, Jean J; Lespérance, Bernard B; Ouellette, Geneviève G; Pichette, Roxane R; Plante, Marie M; Tavtigian, Sean V SV; Simard, Jacques J
Publication Date: 2006-09-29
Variant appearance in text: rs9856772
PubMed Link:
17010193
Variant Present in the following documents:
Main text
View BVdb publication page