HR c.712_713delinsGC ;(p.Q238A)

Variant ID: 8-21985242-TG-GC

NM_005144.4(HR):c.712_713delinsGC;(p.Q238A)

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:

Mapping the Complement Factor H-Related Protein 1 (CFHR1):C3b/C3d Interactions.

Plos One
Hannan, Jonathan P JP; Laskowski, Jennifer J; Thurman, Joshua M JM; Hageman, Gregory S GS; Holers, V Michael VM
Publication Date: 2016

Variant appearance in text: HR: Q238A
PubMed Link: 27814381
Variant Present in the following documents:
  • Main text
  • pone.0166200.pdf
View BVdb publication page