CALR c.565_566delinsTT ;(p.S189F)

Variant ID: 19-13051129-AG-TT

NM_004343.3(CALR):c.565_566delinsTT;(p.S189F)

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:

Systemic Lupus Erythematosus and Deficiencies of Early Components of the Complement Classical Pathway.

Frontiers In Immunology
Macedo, Ana Catarina Lunz AC; Isaac, Lourdes L
Publication Date: 2016

Variant appearance in text: cC1qR: Ser189Phe
PubMed Link: 26941740
Variant Present in the following documents:
  • fimmu-07-00055.pdf
View BVdb publication page