KDR c.35G>T ;(p.W12L)

Variant ID: 4-55991426-C-A

NM_002253.2(KDR):c.35G>T;(p.W12L)

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:

Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis.

International Journal Of Molecular Sciences
Scimone, Concetta C; Granata, Francesca F; Longo, Marcello M; Mormina, Enricomaria E; Turiaco, Cristina C; Caragliano, Antonio A AA; Donato, Luigi L; Sidoti, Antonina A; D'Angelo, Rosalia R
Publication Date: 2020-06-17

Variant appearance in text: KDR: 35G>T
PubMed Link: 32560555
Variant Present in the following documents:
  • ijms-21-04321.pdf
View BVdb publication page