NF1 c.7531G>A ;(p.V2511I)

Variant ID: 17-29679348-G-A

NM_001042492.2(NF1):c.7531G>A;(p.V2511I)

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:

Genetic Profile and Clinical Implications of Hepatoblastoma and Neuroblastoma Coexistence in a Child.

Frontiers In Oncology
Skoczen, Szymon S; Stepien, Konrad K; Krzysztofik, Marta M; Luszawska, Teresa T; Hnatko-Kolacz, Malgorzata M; Korostynski, Michal M; Piechota, Marcin M; Kolanek, Katarzyna K; Wyrobek, Lukasz L; Wysocka, Katarzyna K; Gorecki, Wojciech W; Balwierz, Walentyna W
Publication Date: 2019

Variant appearance in text: NF1: Val2511Ile
PubMed Link: 31019896
Variant Present in the following documents:
  • Main text
  • fonc-09-00230.pdf
View BVdb publication page