NF1 c.214G>C ;(p.G72R)

Variant ID: 17-29486037-G-C

NM_001042492.2(NF1):c.214G>C;(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