NF1 c.5530A>T ;(p.K1844*)

Variant ID: 17-29654778-A-T

NM_001042492.2(NF1):c.5530A>T;(p.K1844*)

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:

Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.

Plos One
Crona, Joakim J; Ljungström, Viktor V; Welin, Staffan S; Walz, Martin K MK; Hellman, Per P; Björklund, Peyman P
Publication Date: 2015

Variant appearance in text: NF1: Lys1844*
PubMed Link: 26230854
Variant Present in the following documents:
  • Main text
  • pone.0133210.pdf
View BVdb publication page