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NOTCH1 c.7652del ;(p.P2551Rfs*38)
Variant ID: 9-139390538-CG-C
NM_017617.3(
NOTCH1
):c.7652del;(p.P2551Rfs*38)
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:
Acquired somatic variants in inherited myeloid malignancies.
Leukemia
Armes, Hannah H; Rio-Machin, Ana A; Krizsán, Szilvia S; Bödör, Csaba C; Kaya, Fadimana F; Bewicke-Copley, Findlay F; Alnajar, Jenna J; Walne, Amanda A; Péterffy, Borbála B; Tummala, Hemanth H; Rouault-Pierre, Kevin K; Dokal, Inderjeet I; Vulliamy, Tom T; Fitzgibbon, Jude J
Publication Date: 2022-05
Variant appearance in text: NOTCH1: 7652delC; P2551fs
PubMed Link:
35140362
Variant Present in the following documents:
41375_2022_1515_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Design and MinION testing of a nanopore targeted gene sequencing panel for chronic lymphocytic leukemia.
Scientific Reports
Orsini, Paola P; Minervini, Crescenzio F CF; Cumbo, Cosimo C; Anelli, Luisa L; Zagaria, Antonella A; Minervini, Angela A; Coccaro, Nicoletta N; Tota, Giuseppina G; Casieri, Paola P; Impera, Luciana L; Parciante, Elisa E; Brunetti, Claudia C; Giordano, Annamaria A; Specchia, Giorgina G; Albano, Francesco F
Publication Date: 2018-08-07
Variant appearance in text: NOTCH1: 7652delC; P2551fs
PubMed Link:
30087429
Variant Present in the following documents:
41598_2018_30330_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page