LDLR c.260_261delinsAA ;(p.W87*)

Variant ID: 19-11213409-GG-AA

NM_000527.4(LDLR):c.260_261delinsAA;(p.W87*)

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:

Identification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutations.

Atherosclerosis
Ng, David D; Spaulding, Emma E; , ; Mullikin, James C JC; Biesecker, Leslie G LG
Publication Date: 2010-08

Variant appearance in text: LDLR: 260_261delinsAA; Trp87X
PubMed Link: 20452591
Variant Present in the following documents:
  • Main text
View BVdb publication page