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NF1 c.2342A>T ;(p.H781L)
Variant ID: 17-29554557-A-T
NM_001042492.2(
NF1
):c.2342A>T;(p.H781L)
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:
Melanocytic Neoplasms With MAP2K1 in Frame Deletions and Spitz Morphology.
The American Journal Of Dermatopathology
Sunshine, Joel C JC; Kim, Daniel D; Zhang, Bin B; Compres, Elsy V EV; Khan, Ayesha U AU; Busam, Klaus J KJ; Gerami, Pedram P
Publication Date: 2020-12
Variant appearance in text: NF1: H781L
PubMed Link:
33289976
Variant Present in the following documents:
Main text
View BVdb publication page
Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.
Ebiomedicine
Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S
Publication Date: 2018-10
Variant appearance in text: rs199474763
PubMed Link:
30274822
Variant Present in the following documents:
mmc1.xls, sheet 1
View BVdb publication page
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: NF1: 2342A>T; His781Leu
PubMed Link:
28569743
Variant Present in the following documents:
gim201760x7.xlsx, sheet 2
View BVdb publication page