Bibliome.ai browser hg19
Search
About
Stats
FAQ
LDLR c.860G>A ;(p.G287D)
Variant ID: 19-11218110-G-A
NM_000527.4(
LDLR
):c.860G>A;(p.G287D)
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:
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Human Genetics
Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H
Publication Date: 2013-10
Variant appearance in text: LDLR: 860G>A
PubMed Link:
23820649
Variant Present in the following documents:
Main text
View BVdb publication page