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LDLR c.2333G>T ;(p.R778I)
Variant ID: 19-11238705-G-T
NM_000527.4(
LDLR
):c.2333G>T;(p.R778I)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Clinical And Translational Medicine
Cong, Pei-Kuan PK; Khederzadeh, Saber S; Yuan, Cheng-Da CD; Ma, Rui-Jie RJ; Zhang, Yi-Yao YY; Liu, Jun-Quan JQ; Yu, Shi-Hui SH; Xu, Lin L; Gao, Jian-Hua JH; Pan, Hong-Xu HX; Li, Jin-Chen JC; Xie, Shu-Yang SY; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF
Publication Date: 2022-05
Variant appearance in text: LDLR: 2333G>T; Arg778Leu
PubMed Link:
35538921
Variant Present in the following documents:
CTM2-12-e866.pdf
View BVdb publication page