Variant ID: 1-55529156-G-C

NM_174936.3(PCSK9):c.1978G>C;(p.Asp660His)

This variant was identified in 2 publications



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

DNA methylation analysis of paediatric low-grade astrocytomas identifies a tumour-specific hypomethylation signature in pilocytic astrocytomas.

Acta Neuropathologica Communications
JN Jeyapalan, GT Doctor, TA Jones, SN Alberman, A Tep, CM Haria, EC Schwalbe, IC Morley, AA Hill, M LeCain, D Ottaviani, SC Clifford, I Qaddoumi, RG Tatevossian, DW Ellison, D Sheer
Publication Date: 2016-05-27

Variant appearance in text: rs72646530
PubMed Link: 27229157
Variant Present in the following documents:
  • 40478_2016_323_MOESM7_ESM.xlsx
View BVdb publication page


Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.

The Journal Of Clinical Endocrinology And Metabolism
CW Tsai, KE North, A Tin, K Haack, N Franceschini, V Saroja Voruganti, S Laston, Y Zhang, LG Best, JW MacCluer, TH Beaty, A Navas-Acien, WH Kao, BV Howard
Publication Date: 2015-02

Variant appearance in text: PCSK9: D660H
PubMed Link: 25412415
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1978G>C p.Asp660His missense_variant 12/12 -
ENST00000490692.1 n.2524G>C - non_coding_transcript_exon_variant 8/8 -
NM_174936.4 c.1978G>C p.Asp660His missense_variant 12/12 -
NR_110451.1 n.1585G>C - non_coding_transcript_exon_variant 10/10 -