LDLR c.1411A>T ;(p.R471*)

Variant ID: 19-11224263-A-T

NM_000527.4(LDLR):c.1411A>T;(p.R471*)

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:

Creation of X-linked Alport syndrome rat model with Col4a5 deficiency.

Scientific Reports
Namba, Masumi M; Kobayashi, Tomoe T; Kohno, Mayumi M; Koyano, Takayuki T; Hirose, Takuo T; Fukushima, Masaki M; Matsuyama, Makoto M
Publication Date: 2021-10-21

Variant appearance in text: LDLR: R471X
PubMed Link: 34675305
Variant Present in the following documents:
  • 41598_2021_Article_354.pdf
View BVdb publication page