LDLR c.1561G>C ;(p.A521P)

Variant ID: 19-11224413-G-C

NM_000527.4(LDLR):c.1561G>C;(p.A521P)

This variant was identified in 4 publications

View GRCh38 version.




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: 1561G>C
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: 1561G>C
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: 1561G>C
PubMed Link: 22973972
Variant Present in the following documents:
  • Main text
  • 1471-2350-13-80.pdf
View BVdb publication page



Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome).

Journal Of Child Neurology
Boycott, Kym M KM; Bonnemann, Carsten C; Herz, Joachim J; Neuert, Stephanie S; Beaulieu, Chandree C; Scott, James N JN; Venkatasubramanian, Anuradha A; Parboosingh, Jillian S JS
Publication Date: 2009-10

Variant appearance in text: LDLR: 1561G>C
PubMed Link: 19332571
Variant Present in the following documents:
  • Main text
View BVdb publication page