ALK c.567del ;(p.M190Cfs*59)

Variant ID: 2-30142959-TC-T

NM_004304.4(ALK):c.567del;(p.M190Cfs*59)

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:

Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.

Bmc Medical Genetics
Fontalba, Ana A; Fernandez-L, Africa A; García-Alegria, Eva E; Albiñana, Virginia V; Garrido-Martin, Eva M EM; Blanco, Francisco J FJ; Zarrabeitia, Roberto R; Perez-Molino, Alfonso A; Bernabeu-Herrero, Maria E ME; Ojeda, Maria-Luisa ML; Fernandez-Luna, Jose L JL; Bernabeu, Carmelo C; Botella, Luisa M LM
Publication Date: 2008-08-01

Variant appearance in text: ALK: 567delG
PubMed Link: 18673552
Variant Present in the following documents:
  • 1471-2350-9-75-S2.xls, sheet 1
View BVdb publication page