Variant ID: 19-11240196-TCGTCTTCCT-T


This variant was identified in 2 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: 2393_2401del
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

M Futema, RA Whittall, A Kiley, LK Steel, JA Cooper, E Badmus, SE Leigh, F Karpe, HA Neil, , SE Humphries
Publication Date: 2013-07

Variant appearance in text: LDLR: 2393_2401del
PubMed Link: 23669246
Variant Present in the following documents:
  • mmc1.docx
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.2652_2660del p.Val885_Leu887del inframe_deletion 17/18 -
ENST00000455727.2 c.1894_1902del p.Val632_Leu634del inframe_deletion 15/16 -
ENST00000535915.1 c.2275_2283del p.Val759_Leu761del inframe_deletion 16/17 -
ENST00000545707.1 c.1864_1872del p.Val622_Leu624del inframe_deletion 15/16 -
ENST00000557933.1 c.2460_2468del p.Ser821_Phe823del inframe_deletion 17/18 -
ENST00000558013.1 c.2398_2406del p.Val800_Leu802del inframe_deletion 17/18 -
ENST00000558518.1 c.2398_2406del p.Val800_Leu802del inframe_deletion 17/18 -
ENST00000560628.1 n.108+1867_108+1875del - intron_variant,non_coding_transcript_variant - 1/1
NM_000527.5 c.2398_2406del p.Val800_Leu802del inframe_deletion 17/18 -
NM_001195798.2 c.2398_2406del p.Val800_Leu802del inframe_deletion 17/18 -
NM_001195799.2 c.2275_2283del p.Val759_Leu761del inframe_deletion 16/17 -
NM_001195800.2 c.1894_1902del p.Val632_Leu634del inframe_deletion 15/16 -
NM_001195803.2 c.1864_1872del p.Val622_Leu624del inframe_deletion 15/16 -