Variant ID: 8-133894778-C-A

NM_003235.4(TG):c.810C>A;(p.Thr270Thr)

This variant was identified in 2 publications




Publications:


SOX9 duplication linked to intersex in deer.

Plos One
R Kropatsch, G Dekomien, DA Akkad, WM Gerding, E Petrasch-Parwez, ND Young, J Altmüller, P Nürnberg, RB Gasser, JT Epplen
Publication Date: 2013

Variant appearance in text: N/A
PubMed Link: 24040047
Variant Present in the following documents:
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: TG: 810C>A
PubMed Link: 15701167
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000220616.4 c.810C>A p.Thr270= synonymous_variant 7/48 -
ENST00000377869.1 c.810C>A p.Thr270= synonymous_variant 7/47 -
ENST00000520769.1 n.163C>A - non_coding_transcript_exon_variant 2/3 -
NM_003235.5 c.810C>A p.Thr270= synonymous_variant 7/48 -