Variant ID: 19-11227605-GGGG-G

NM_000527.4(LDLR):c.1776_1778del;(p.Gly593del)

This variant was identified in 2 publications




Publications:


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: 1776_1778del; G592del
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page



Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Journal Of Medical Genetics
M Futema, V Plagnol, RA Whittall, HA Neil, , SE Humphries,
Publication Date: 2012-10

Variant appearance in text: LDLR: 1776_1778del; G592del
PubMed Link: 23054246
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.2031_2033del p.Gly678del inframe_deletion 12/18 -
ENST00000455727.2 c.1273_1275del p.Gly425del inframe_deletion 10/16 -
ENST00000535915.1 c.1654_1656del p.Gly552del inframe_deletion 11/17 -
ENST00000545707.1 c.1396_1398del p.Gly466del inframe_deletion 11/16 -
ENST00000557933.1 c.1777_1779del p.Gly593del inframe_deletion 12/18 -
ENST00000558013.1 c.1777_1779del p.Gly593del inframe_deletion 12/18 -
ENST00000558518.1 c.1777_1779del p.Gly593del inframe_deletion 12/18 -
ENST00000559340.1 c.426+718_426+720del - intron_variant,NMD_transcript_variant - 3/4
NM_000527.5 c.1777_1779del p.Gly593del inframe_deletion 12/18 -
NM_001195798.2 c.1777_1779del p.Gly593del inframe_deletion 12/18 -
NM_001195799.2 c.1654_1656del p.Gly552del inframe_deletion 11/17 -
NM_001195800.2 c.1273_1275del p.Gly425del inframe_deletion 10/16 -
NM_001195803.2 c.1396_1398del p.Gly466del inframe_deletion 11/16 -