ESR1 c.450C>A ;(p.Y150*)

Variant ID: 6-152129497-C-A

NM_000125.3(ESR1):c.450C>A;(p.Y150*)

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:

Synonymous mutation adenomatous polyposis coliΔ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation‑negative familial adenomatous polyposis.

Molecular Medicine Reports
Liu, Wei Qing WQ; Dong, Jian J; Peng, Yan Xia YX; Li, Wen Liang WL; Yang, Jun J
Publication Date: 2018-12

Variant appearance in text: ESR: 450C>A
PubMed Link: 30272267
Variant Present in the following documents:
  • Main text
View BVdb publication page