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TP53 c.1010_1018del ;(p.R337_M340delinsL)
Variant ID: 17-7574009-ATCTCGAAGC-A
NM_000546.5(
TP53
):c.1010_1018del;(p.R337_M340delinsL)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma.
Nature Genetics
Taylor, Kathryn R KR; Mackay, Alan A; Truffaux, Nathalène N; Butterfield, Yaron Y; Morozova, Olena O; Philippe, Cathy C; Castel, David D; Grasso, Catherine S CS; Vinci, Maria M; Carvalho, Diana D; Carcaboso, Angel M AM; de Torres, Carmen C; Cruz, Ofelia O; Mora, Jaume J; Entz-Werle, Natacha N; Ingram, Wendy J WJ; Monje, Michelle M; Hargrave, Darren D; Bullock, Alex N AN; Puget, Stéphanie S; Yip, Stephen S; Jones, Chris C; Grill, Jacques J
Publication Date: 2014-05
Variant appearance in text: TP53: 1010_1018delGCTTCGAGA; Arg337_Met340delinsLeu
PubMed Link:
24705252
Variant Present in the following documents:
NIHMS57117-supplement-2.xlsx, sheet 2
View BVdb publication page