The BVdb contains the following variants within the queried genomic coordinates:
Chr1:55523127-55523137

PCSK9 proprotein convertase subtilisin/kexin type 9

Canonical transcript: NM_174936

9 unique variant annotations were identified
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
1-55523127-G-C c.1120G>C p.Asp374His Missense 7/12 - 13
1-55523128-A-G c.1121A>G p.Asp374Gly Missense 7/12 - 1
1-55523130-TG-GC c.1123_1124delinsGC p.Cys375Ala Missense 7/12 - 1
1-55523133-AG-GC c.1126_1127delinsGC p.Ser376Ala Missense 7/12 - 1
1-55523127-G-A c.1120G>A p.Asp374Asn Missense 7/12 - 3
1-55523127-G-T c.1120G>T p.Asp374Tyr Missense 7/12 - 171
1-55523133-A-G c.1126A>G p.Ser376Gly Missense 7/12 - 1
1-55523128-A-C c.1121A>C p.Asp374Ala Missense 7/12 - 3
1-55523136-A-G c.1129A>G p.Thr377Ala Missense 7/12 - 1