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LDLR c.17G>A ;(p.W6*)
Variant ID: 19-11200241-G-A
NM_000527.4(
LDLR
):c.17G>A;(p.W6*)
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:
Left main revascularization with optical coherence tomography in a young male with newly diagnosed homozygous familial hypercholesterolemia.
Journal Of Cardiology Cases
Revaiah, Pruthvi C PC; Bootla, Dinakar D; Vemuri, Krishna Santosh KS; Nevali, Krishna Prasad KP; Ghosh, Soumitra S; Sharma, Yash Paul YP; Panda, Prashant P
Publication Date: 2022-01
Variant appearance in text: LDLR: Trp6Ter
PubMed Link:
35024061
Variant Present in the following documents:
Main text
View BVdb publication page
Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.
Journal Of Atherosclerosis And Thrombosis
Wang, Hao H; Yang, Hang H; Liu, Zhaohui Z; Cui, Kai K; Zhang, Yinhui Y; Zhang, Yujing Y; Zhao, Kun K; Yin, Kunlun K; Li, Wenke W; Zhou, Zhou Z
Publication Date: 2020-12-01
Variant appearance in text: LDLR: 17G>A; Trp6Ter
PubMed Link:
32759540
Variant Present in the following documents:
Main text
jat-27-1288.pdf
View BVdb publication page