NF1 c.2998del ;(p.R1000Vfs*12)

Variant ID: 17-29557285-TC-T

NM_001042492.2(NF1):c.2998del;(p.R1000Vfs*12)

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:

Molecular Profile of a Pituitary Rhabdomyosarcoma Arising From a Pituitary Macroadenoma: A Case Report.

Frontiers In Endocrinology
Lu, Jinci J; Chen, Liam L
Publication Date: 2021

Variant appearance in text: NF1: 2998del; R1000Vfs*12
PubMed Link: 34659131
Variant Present in the following documents:
  • Main text
  • fendo-12-752361.pdf
View BVdb publication page