Variant ID: 1-55518412-C-A

NM_174936.3(PCSK9):c.747C>A;(p.Ser249Arg)

This variant was identified in 1 publication




Publications:


Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics
S Glentis, AC Dimopoulos, K Rouskas, G Ntritsos, E Evangelou, SA Narod, AM Mes-Masson, WD Foulkes, B Rivera, PN Tonin, J Ragoussis, AS Dimas
Publication Date: 2019

Variant appearance in text: rs768846693
PubMed Link: 31681433
Variant Present in the following documents:
  • DataSheet_1.xlsx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.747C>A p.Ser249Arg missense_variant 5/12 -
ENST00000452118.2 c.*391C>A - 3_prime_UTR_variant 6/6 -
ENST00000490692.1 n.1568C>A - non_coding_transcript_exon_variant 2/8 -
ENST00000543384.1 c.147C>A p.Ser49Arg missense_variant 3/10 -
NM_174936.4 c.747C>A p.Ser249Arg missense_variant 5/12 -
NR_110451.1 n.406C>A - non_coding_transcript_exon_variant 3/10 -