Bibliome.ai browser hg19
Search
About
Stats
FAQ
NF1 c.60+1602A>G
Variant ID: 17-29423989-A-G
NM_001042492.2(
NF1
):c.60+1602A>G
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:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: rs1123232
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
A quantitative assessment of the burden and distribution of Lisch nodules in adults with neurofibromatosis type 1.
Investigative Ophthalmology & Visual Science
Boley, Sean S; Sloan, Jennifer L JL; Pemov, Alexander A; Stewart, Douglas R DR
Publication Date: 2009-11
Variant appearance in text: rs1123232
PubMed Link:
19516012
Variant Present in the following documents:
Main text
View BVdb publication page