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PALB2 c.1743A>G ;(p.L581=)
Variant ID: 16-23641732-T-C
NM_024675.3(
PALB2
):c.1743A>G;(p.L581=)
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:
Sources of discordance among germ-line variant classifications in ClinVar.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10
Variant appearance in text: PALB2: 1743A>G; Leu581=
PubMed Link:
28569743
Variant Present in the following documents:
gim201760x7.xlsx, sheet 2
View BVdb publication page
Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer.
Gastroenterology
Tischkowitz, Marc D MD; Sabbaghian, Nelly N; Hamel, Nancy N; Borgida, Ayelet A; Rosner, Chaim C; Taherian, Nassim N; Srivastava, Archana A; Holter, Spring S; Rothenmund, Heidi H; Ghadirian, Parviz P; Foulkes, William D WD; Gallinger, Steven S
Publication Date: 2009-09
Variant appearance in text: PALB2: 1743A>G; L581L
PubMed Link:
19635604
Variant Present in the following documents:
Main text
View BVdb publication page