Variant ID: 3-197762733-TTTGGGTCC-T

NM_033029.3(LMLN):c.1686_1693del;(p.Trp563Argfs*7)

This variant was identified in 1 publication




Publications:


Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Bmc Medical Genetics
TY Komarova, VA Korneva, TY Kuznetsova, AS Golovina, VB Vasilyev, MY Mandelshtam
Publication Date: 2013-12-27

Variant appearance in text: Msp: 1686_1693del
PubMed Link: 24373485
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000330198.4 c.1687_1694del p.Trp563Argfs*7 frameshift_variant 15/16 -
ENST00000332636.5 c.1531_1538del p.Trp511Argfs*7 frameshift_variant 15/16 -
ENST00000420910.2 c.1798_1805del p.Trp600Argfs*7 frameshift_variant 16/17 -
ENST00000451139.2 n.2289_2296del - non_coding_transcript_exon_variant 15/16 -
ENST00000482695.1 c.1642_1649del p.Trp548Argfs*7 frameshift_variant 16/17 -
NM_001136049.2 c.1798_1805del p.Trp600Argfs*7 frameshift_variant 16/17 -
NM_033029.3 c.1687_1694del p.Trp563Argfs*7 frameshift_variant 15/16 -
NR_026786.2 n.1682_1689del - non_coding_transcript_exon_variant 16/17 -
NR_026787.2 n.1571_1578del - non_coding_transcript_exon_variant 15/16 -