Bibliome.ai browser hg19
Search
About
Stats
FAQ
LDLR c.1817C>T ;(p.A606V)
Variant ID: 19-11227646-C-T
NM_000527.4(
LDLR
):c.1817C>T;(p.A606V)
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:
Identification of pathogenic missense mutations using protein stability predictors.
Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21
Variant appearance in text: LDLR: A606V
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
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: A606V
PubMed Link:
26608663
Variant Present in the following documents:
View BVdb publication page