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LDLR c.1786A>G ;(p.K596E)
Variant ID: 19-11227615-A-G
NM_000527.4(
LDLR
):c.1786A>G;(p.K596E)
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:
The distribution and characteristics of LDL receptor mutations in China: A systematic review.
Scientific Reports
Jiang, Long L; Sun, Li-Yuan LY; Dai, Yan-Fang YF; Yang, Shi-Wei SW; Zhang, Feng F; Wang, Lu-Ya LY
Publication Date: 2015-11-26
Variant appearance in text: LDLR: K596E
PubMed Link:
26608663
Variant Present in the following documents:
Main text
srep17272.pdf
View BVdb publication page
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: K596E
PubMed Link:
23819521
Variant Present in the following documents:
1471-2164-14-S3-S7-S1.xlsx, sheet 3
View BVdb publication page