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LDLR c.2117G>T ;(p.R706M)
Variant ID: 19-11231175-G-T
NM_000527.4(
LDLR
):c.2117G>T;(p.R706M)
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:
Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia.
Febs Open Bio
Kizhakkedath, Praseetha P; John, Anne A; Al-Sawafi, Buthaina K BK; Al-Gazali, Lihadh L; Ali, Bassam R BR
Publication Date: 2019-11
Variant appearance in text: LDLR: 2117G>T
PubMed Link:
31587492
Variant Present in the following documents:
Main text
FEB4-9-1994.pdf
View BVdb publication page
Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome.
Scientific Reports
Kizhakkedath, Praseetha P; John, Anne A; Al-Gazali, Lihadh L; Ali, Bassam R BR
Publication Date: 2018-01-25
Variant appearance in text: LDLR: 2117G>T
PubMed Link:
29371607
Variant Present in the following documents:
Main text
41598_2017_Article_19053.pdf
View BVdb publication page
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.
Bmc Medical Genetics
Ali, Bassam R BR; Silhavy, Jennifer L JL; Gleeson, Matthew J MJ; Gleeson, Joseph G JG; Al-Gazali, Lihadh L
Publication Date: 2012-09-14
Variant appearance in text: LDLR: 2117G>T
PubMed Link:
22973972
Variant Present in the following documents:
Main text
1471-2350-13-80.pdf
View BVdb publication page