Variant ID: 1-230800295-T-C

NM_007357.2(COG2):c.447T>C;(p.Ser149Ser)

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: LDLC: 447T>C
PubMed Link: 15701167
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000366668.3 c.447T>C p.Ser149= synonymous_variant 5/18 -
ENST00000366669.4 c.447T>C p.Ser149= synonymous_variant 5/18 -
ENST00000468893.2 c.*305T>C - 3_prime_UTR_variant,NMD_transcript_variant 6/19 -
ENST00000494371.1 n.565T>C - non_coding_transcript_exon_variant 5/10 -
ENST00000534989.1 c.270T>C p.Ser90= synonymous_variant 5/18 -
ENST00000535166.1 c.99T>C p.Ser33= synonymous_variant 6/19 -
NM_001145036.2 c.447T>C p.Ser149= synonymous_variant 5/18 -
NM_007357.3 c.447T>C p.Ser149= synonymous_variant 5/18 -