Bibliome.ai browser hg19
Search
About
Stats
FAQ
NF1 c.214G>A ;(p.G72R)
Variant ID: 17-29486037-G-A
NM_001042492.2(
NF1
):c.214G>A;(p.G72R)
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:
Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant.
Human Genome Variation
Tomida, Akimasa A; Chiyonobu, Tomohiro T; Tokuda, Shinsaku S; Miyachi, Mitsuru M; Murashima, Kyoko K; Hirata, Makoto M; Nakagawa, Masanori M; Iehara, Tomoko T; Kuroda, Junya J; Takayama, Koichi K
Publication Date: 2022-03-08
Variant appearance in text: NF1: G72R
PubMed Link:
35260566
Variant Present in the following documents:
Main text
41439_2022_Article_185.pdf
View BVdb publication page