Variant ID: 2-21233102-ATCA-A

NM_000384.2(APOB):c.6639_6641del;(p.Asp2213del)

This variant was identified in 2 publications




Publications:


Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

European Journal Of Human Genetics : Ejhg
I Brænne, M Kleinecke, B Reiz, E Graf, T Strom, T Wieland, M Fischer, T Kessler, C Hengstenberg, T Meitinger, J Erdmann, H Schunkert
Publication Date: 2016-02

Variant appearance in text: APOB: 6636_6638del
PubMed Link: 26036859
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: APOB: 6639_6641delTGA
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000233242.1 c.6635_6637del p.Leu2212_Asp2213delinsHis inframe_deletion 26/29 -
NM_000384.3 c.6635_6637del p.Leu2212_Asp2213delinsHis inframe_deletion 26/29 -