TEK c.2338_2339delinsCA ;(p.R780Q)

Variant ID: 9-27205037-AG-CA

NM_000459.3(TEK):c.2338_2339delinsCA;(p.R780Q)

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:

The pathobiology of vascular malformations: insights from human and model organism genetics.

The Journal Of Pathology
Wetzel-Strong, Sarah E SE; Detter, Matthew R MR; Marchuk, Douglas A DA
Publication Date: 2017-01

Variant appearance in text: TEK: R780Q
PubMed Link: 27859310
Variant Present in the following documents:
  • Main text
View BVdb publication page