Variant ID: 1-25890173-CT-C

NM_015627.2(LDLRAP1):c.638del;(p.Leu213Argfs*3)

This variant was identified in 1 publication




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: LDLRAP1: 638delT
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000374338.4 c.640del p.Asp214Thrfs*2 frameshift_variant 7/9 -
ENST00000474283.1 n.51del - non_coding_transcript_exon_variant 1/3 -
ENST00000484476.1 n.362del - non_coding_transcript_exon_variant 2/4 -
ENST00000488127.1 n.1110del - non_coding_transcript_exon_variant 6/7 -
NM_015627.3 c.640del p.Asp214Thrfs*2 frameshift_variant 7/9 -