Bibliome.ai browser hg19
Search
About
Stats
FAQ
APOB c.205G>A ;(p.D69N)
Variant ID: 2-21265265-C-T
NM_000384.2(
APOB
):c.205G>A;(p.D69N)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region.
Journal Of Atherosclerosis And Thrombosis
Kalra, Sanjay S; Chen, Zhenyue Z; Deerochanawong, Chaicharn C; Shyu, Kou-Gi KG; Tan, Ru San RS; Tomlinson, Brian B; Yeh, Hung-I HI
Publication Date: 2021-05-01
Variant appearance in text: APOB: D69N
PubMed Link:
33746137
Variant Present in the following documents:
Main text
28_417.pdf
View BVdb publication page
The Genomic Landscape of Actinic Keratosis.
The Journal Of Investigative Dermatology
Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J
Publication Date: 2021-07
Variant appearance in text: APOB: D69N
PubMed Link:
33482222
Variant Present in the following documents:
mmc1.xlsx, sheet 4
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: APOB: D69N
PubMed Link:
26608663
Variant Present in the following documents:
Main text
srep17272.pdf
View BVdb publication page