Variant ID: 1-241663875-G-A

NM_000143.3(FH):c.1252C>T;(p.His418Tyr)

This variant was identified in 2 publications




Publications:


The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.

Archives Of Neurology
CE Yu, TD Bird, LM Bekris, TJ Montine, JB Leverenz, E Steinbart, NM Galloway, H Feldman, R Woltjer, CA Miller, EM Wood, M Grossman, L McCluskey, CM Clark, M Neumann, A Danek, DR Galasko, SE Arnold, A Chen-Plotkin, A Karydas, BL Miller, JQ Trojanowski, VM Lee, GD Schellenberg, VM Van Deerlin
Publication Date: 2010-02

Variant appearance in text: FH: 1252C>T
PubMed Link: 20142524
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: FH: 1252C>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
ENST00000366560.3 c.1252C>T p.His418Tyr missense_variant 9/10 -
NM_000143.3 c.1252C>T p.His418Tyr missense_variant 9/10 -