CP c.351C>G ;(p.Y117*)

Variant ID: 3-148930281-G-C

NM_000096.3(CP):c.351C>G;(p.Y117*)

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:

Complement regulator CD46: genetic variants and disease associations.

Human Genomics
Liszewski, M Kathryn MK; Atkinson, John P JP
Publication Date: 2015-06-10

Variant appearance in text: CP: Y117X
PubMed Link: 26054645
Variant Present in the following documents:
  • Main text
  • 40246_2015_Article_29.pdf
View BVdb publication page