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LDLR c.793A>C ;(p.S265R)
Variant ID: 19-11217339-A-C
NM_000527.4(
LDLR
):c.793A>C;(p.S265R)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013
Variant appearance in text: LDLR: S265R
PubMed Link:
23819521
Variant Present in the following documents:
1471-2164-14-S3-S7-S1.xlsx, sheet 3
View BVdb publication page
Genetic variation and atherosclerosis.
Current Genomics
Biros, Erik E; Karan, Mirko M; Golledge, Jonathan J
Publication Date: 2008-03
Variant appearance in text: LDLR: S265R
PubMed Link:
19424482
Variant Present in the following documents:
Main text
CG-9-29.pdf
View BVdb publication page