Variant ID: 1-55521832-C-T

NM_174936.3(PCSK9):c.966C>T;(p.Ala322Ala)

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:

Molecular analysis of the LDLR gene in coronary artery disease patients from the Indian population.

Clinical Biochemistry
KN ArulJothi, RA Whitthall, M Futema, SE Humphries, M George, S Elangovan, DR Nair, A Devi
Publication Date: 2016-06

Variant appearance in text: PCSK9: 966C>T
PubMed Link: 26927322
Variant Present in the following documents:
  • Supplemental file
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.966C>T p.Ala322= synonymous_variant 6/12 -
ENST00000490692.1 n.1787C>T - non_coding_transcript_exon_variant 3/8 -
ENST00000543384.1 c.366C>T p.Ala122= synonymous_variant 4/10 -
NM_174936.4 c.966C>T p.Ala322= synonymous_variant 6/12 -
NR_110451.1 n.625C>T - non_coding_transcript_exon_variant 4/10 -