Variant ID: 3-197717542-GTT-TAA

NM_033029.3(LMLN):c.1042_1044delinsTAA;(p.Val348*)

This variant was identified in 2 publications




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: V348X
PubMed Link: 24373485
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Bmc Medical Genetics
FM Zakharova, D Damgaard, MY Mandelshtam, VI Golubkov, PH Nissen, GG Nilsen, A Stenderup, BM Lipovetsky, VO Konstantinov, AD Denisenko, VB Vasilyev, O Faergeman
Publication Date: 2005-02-08

Variant appearance in text: Msp: V348X
PubMed Link: 15701167
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000330198.4 c.1042_1044delinsTAA p.Val348* stop_gained 9/16 -
ENST00000332636.5 c.886_888delinsTAA p.Val296* stop_gained 9/16 -
ENST00000420910.2 c.1042_1044delinsTAA p.Val348* stop_gained 9/17 -
ENST00000451139.2 n.1533_1535delinsTAA - non_coding_transcript_exon_variant 8/16 -
ENST00000472063.1 n.353_355delinsTAA - non_coding_transcript_exon_variant 2/3 -
ENST00000473676.1 n.500_502delinsTAA - non_coding_transcript_exon_variant 4/6 -
ENST00000476356.1 n.244_246delinsTAA - non_coding_transcript_exon_variant 2/5 -
ENST00000480813.1 n.58_60delinsTAA - non_coding_transcript_exon_variant 1/3 -
ENST00000482695.1 c.886_888delinsTAA p.Val296* stop_gained 9/17 -
NM_001136049.2 c.1042_1044delinsTAA p.Val348* stop_gained 9/17 -
NM_033029.3 c.1042_1044delinsTAA p.Val348* stop_gained 9/16 -
NR_026786.2 n.926_928delinsTAA - non_coding_transcript_exon_variant 9/17 -
NR_026787.2 n.926_928delinsTAA - non_coding_transcript_exon_variant 9/16 -