NF1 c.4227_4285del ;(p.M1409Ifs*6)

Variant ID: 17-29585415-TGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATA-T

NM_001042492.2(NF1):c.4227_4285del;(p.M1409Ifs*6)

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:

Neurofibromin controls macropinocytosis and phagocytosis in Dictyostelium.

Elife
Bloomfield, Gareth G; Traynor, David D; Sander, Sophia P SP; Veltman, Douwe M DM; Pachebat, Justin A JA; Kay, Robert R RR
Publication Date: 2015-03-27

Variant appearance in text: NF1: 4227_4459del
PubMed Link: 25815683
Variant Present in the following documents:
  • Main text
  • elife04940.pdf
View BVdb publication page