NF1 c.7126C>T ;(p.H2376Y)

Variant ID: 17-29670090-C-T

NM_001042492.2(NF1):c.7126C>T;(p.H2376Y)

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:

NF1 Mutations Are Common in Desmoplastic Melanoma.

The American Journal Of Surgical Pathology
Wiesner, Thomas T; Kiuru, Maija M; Scott, Sasinya N SN; Arcila, Maria M; Halpern, Allan C AC; Hollmann, Travis T; Berger, Michael F MF; Busam, Klaus J KJ
Publication Date: 2015-10

Variant appearance in text: NF1: H2376Y
PubMed Link: 26076063
Variant Present in the following documents:
  • Main text
View BVdb publication page