Variant ID: 1-55527230-G-A

NM_174936.3(PCSK9):c.1863+1G>A

This variant was identified in 1 publication



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

Publications:

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

Ebiomedicine
SB Foley, JJ Rios, VE Mgbemena, LS Robinson, HL Hampel, AE Toland, L Durham, TS Ross
Publication Date: 2015-01

Variant appearance in text: PCSK9: 1863+1G>A
PubMed Link: 26023681
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1863+1G>A - splice_donor_variant - 11/11
ENST00000490692.1 n.2409+1G>A - splice_donor_variant,non_coding_transcript_variant - 7/7
ENST00000543384.1 c.*410+1G>A - splice_donor_variant - 9/9
NM_174936.4 c.1863+1G>A - splice_donor_variant - 11/11
NR_110451.1 n.1470+1G>A - splice_donor_variant,non_coding_transcript_variant - 9/9