Bibliome.ai browser hg19
Search
About
Stats
FAQ
LDLR c.2200_2202delinsTTT ;(p.T734F)
Variant ID: 19-11233909-ACA-TTT
NM_000527.4(
LDLR
):c.2200_2202delinsTTT;(p.T734F)
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:
Genetic Diagnosis of Familial Hypercholesterolemia in Asia.
Frontiers In Genetics
Huang, Chin-Chou CC; Charng, Min-Ji MJ
Publication Date: 2020
Variant appearance in text: LDLR: T734F
PubMed Link:
32793292
Variant Present in the following documents:
Main text
fgene-11-00833.pdf
View BVdb publication page
Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts.
Chonnam Medical Journal
Kim, Hee Nam HN; Kweon, Sun-Seog SS; Shin, Min-Ho MH
Publication Date: 2018-01
Variant appearance in text: LDLR: Thr734Phe
PubMed Link:
29399563
Variant Present in the following documents:
Main text
cmj-54-31.pdf
View BVdb publication page