Variant ID: 1-55518323-G-A

NM_174936.3(PCSK9):c.658G>A;(p.Ala220Thr)

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:

PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Q Guo, X Feng, Y Zhou
Publication Date: 2020

Variant appearance in text: PCSK9: A220T
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.658G>A p.Ala220Thr missense_variant,splice_region_variant 5/12 -
ENST00000452118.2 c.*302G>A - splice_region_variant,3_prime_UTR_variant 6/6 -
ENST00000490692.1 n.1479G>A - splice_region_variant,non_coding_transcript_exon_variant 2/8 -
ENST00000543384.1 c.58G>A p.Ala20Thr missense_variant,splice_region_variant 3/10 -
NM_174936.4 c.658G>A p.Ala220Thr missense_variant,splice_region_variant 5/12 -
NR_110451.1 n.317G>A - splice_region_variant,non_coding_transcript_exon_variant 3/10 -