Variant ID: 1-55523094-GCC-G

NM_174936.3(PCSK9):c.1090_1091del;(p.P364Rfs*62)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene.

Internal Medicine (Tokyo, Japan)
Tada, Hayato H; Okada, Hirofumi H; Nomura, Akihiro A; Nohara, Atsushi A; Takamura, Masayuki M; Kawashiri, Masa-Aki MA
Publication Date: 2020

Variant appearance in text: PCSK9: 1090_1091del
PubMed Link: 32173689
Variant Present in the following documents:
  • Main text
View BVdb publication page