Variant ID: 19-11216084-G-C

NM_000527.4(LDLR):c.502G>C;(p.Asp168His)

This variant was identified in 3 publications




Publications:


Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

International Journal Of Molecular Sciences
A Benito-Vicente, KB Uribe, S Jebari, U Galicia-Garcia, H Ostolaza, C Martin
Publication Date: 2018-06-05

Variant appearance in text: LDLR: 502G>C; Asp168His
PubMed Link: 29874871
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal Of Medical Genetics
M Futema, V Plagnol, K Li, RA Whittall, HA Neil, M Seed, , S Bertolini, S Calandra, OS Descamps, CA Graham, RA Hegele, F Karpe, R Durst, E Leitersdorf, N Lench, DR Nair, H Soran, FM Van Bockxmeer, , SE Humphries
Publication Date: 2014-08

Variant appearance in text: LDLR: 502G>C; D168H
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page



Meta-analysis of gene-level tests for rare variant association.

Nature Genetics
DJ Liu, GM Peloso, X Zhan, OL Holmen, M Zawistowski, S Feng, M Nikpay, PL Auer, A Goel, H Zhang, U Peters, M Farrall, M Orho-Melander, C Kooperberg, R McPherson, H Watkins, CJ Willer, K Hveem, O Melander, S Kathiresan, GR Abecasis
Publication Date: 2014-02

Variant appearance in text: rs200727689
PubMed Link: 24336170
Variant Present in the following documents:
  • NIHMS543085-supplement-1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.757G>C p.Asp253His missense_variant 4/18 -
ENST00000455727.2 c.314-1984G>C - intron_variant - 3/15
ENST00000535915.1 c.379G>C p.Asp127His missense_variant 3/17 -
ENST00000545707.1 c.314-1157G>C - intron_variant - 3/15
ENST00000557933.1 c.502G>C p.Asp168His missense_variant 4/18 -
ENST00000558013.1 c.502G>C p.Asp168His missense_variant 4/18 -
ENST00000558518.1 c.502G>C p.Asp168His missense_variant 4/18 -
ENST00000560467.1 c.103G>C p.Asp35His missense_variant 1/6 -
NM_000527.5 c.502G>C p.Asp168His missense_variant 4/18 -
NM_001195798.2 c.502G>C p.Asp168His missense_variant 4/18 -
NM_001195799.2 c.379G>C p.Asp127His missense_variant 3/17 -
NM_001195800.2 c.314-1984G>C - intron_variant - 3/15
NM_001195803.2 c.314-1157G>C - intron_variant - 3/15