Variant ID: 19-11227652-C-T

NM_000527.4(LDLR):c.1823C>T;(p.Pro608Leu)

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: 1823C>T; P608L
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: 1823C>T; P608L
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.2078C>T p.Pro693Leu missense_variant 12/18 -
ENST00000455727.2 c.1319C>T p.Pro440Leu missense_variant 10/16 -
ENST00000535915.1 c.1700C>T p.Pro567Leu missense_variant 11/17 -
ENST00000545707.1 c.1442C>T p.Pro481Leu missense_variant 11/16 -
ENST00000557933.1 c.1823C>T p.Pro608Leu missense_variant 12/18 -
ENST00000558013.1 c.1823C>T p.Pro608Leu missense_variant 12/18 -
ENST00000558518.1 c.1823C>T p.Pro608Leu missense_variant 12/18 -
ENST00000559340.1 c.426+764C>T - intron_variant,NMD_transcript_variant - 3/4
NM_000527.5 c.1823C>T p.Pro608Leu missense_variant 12/18 -
NM_001195798.2 c.1823C>T p.Pro608Leu missense_variant 12/18 -
NM_001195799.2 c.1700C>T p.Pro567Leu missense_variant 11/17 -
NM_001195800.2 c.1319C>T p.Pro440Leu missense_variant 10/16 -
NM_001195803.2 c.1442C>T p.Pro481Leu missense_variant 11/16 -