Variant ID: 1-55529156-G-A

NM_174936.3(PCSK9):c.1978G>A;(p.Asp660Asn)

This variant was identified in 1 publication




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



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1978G>A p.Asp660Asn missense_variant 12/12 -
ENST00000490692.1 n.2524G>A - non_coding_transcript_exon_variant 8/8 -
NM_174936.4 c.1978G>A p.Asp660Asn missense_variant 12/12 -
NR_110451.1 n.1585G>A - non_coding_transcript_exon_variant 10/10 -