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NF1 c.784_786delinsTGG ;(p.R262W)
Variant ID: 17-29509579-CGT-TGG
NM_001042492.2(
NF1
):c.784_786delinsTGG;(p.R262W)
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:
The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 Mutation.
Case Reports In Genetics
Gundabolu, Krishna K; Dave, Bhavana J BJ; Alvares, Carmelita J CJ; Cannatella, Jeffrey J JJ; Bhatt, Vijaya R VR; Maness, Lori J LJ; Al-Kadhimi, Zaid S ZS; Zabad, Rana K RK; Cushman-Vokoun, Allison M AM
Publication Date: 2022
Variant appearance in text: NF1: R262W
PubMed Link:
35281324
Variant Present in the following documents:
CRIG2022-6977041.pdf
View BVdb publication page