Variant ID: 3-197710835-C-T

NM_033029.3(LMLN):c.750C>T;(p.Asn250Asn)

This variant was identified in 1 publication




Publications:


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: 750C>T
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.750C>T p.Asn250= synonymous_variant 7/16 -
ENST00000332636.5 c.594C>T p.Asn198= synonymous_variant 7/16 -
ENST00000420910.2 c.750C>T p.Asn250= synonymous_variant 7/17 -
ENST00000451139.2 n.1241C>T - non_coding_transcript_exon_variant 6/16 -
ENST00000473676.1 n.208C>T - non_coding_transcript_exon_variant 2/6 -
ENST00000482695.1 c.594C>T p.Asn198= synonymous_variant 7/17 -
NM_001136049.2 c.750C>T p.Asn250= synonymous_variant 7/17 -
NM_033029.3 c.750C>T p.Asn250= synonymous_variant 7/16 -
NR_026786.2 n.634C>T - non_coding_transcript_exon_variant 7/17 -
NR_026787.2 n.634C>T - non_coding_transcript_exon_variant 7/16 -