Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/A/T|Ancestral: C|Ambiguity code: H|MAF: < 0.01 (A)
Location

Chromosome 1:55063542 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM054801

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 15205, 2009_August_001_214_PCSK9_607786_0005

HGVS names

This variant has 14 HGVS names - Hide

Variant allele A
1:g.55063542C>A
ENST00000490692.1:n.2583C>A
ENST00000302118.5:c.2037C>A
ENSP00000303208.5:p.Cys679Ter
LRG_275:g.28996C>A
LRG_275t1:c.2037C>A
LRG_275p1:p.Cys679Ter

Variant allele T
1:g.55063542C>T
ENST00000490692.1:n.2583C>T
ENST00000302118.5:c.2037C>T
ENST00000302118.5:c.2037C>T(p.=)
LRG_275:g.28996C>T
LRG_275t1:c.2037C>T
LRG_275t1:c.2037C>T(p.=)

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 8 transcripts, has 2970 sample genotypes, is associated with 2 phenotypes and is mentioned in 3 citations.

Variant displays