Variant ID: 1-55523097-CCC-C


This variant was identified in 1 publication


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

Internal Medicine (Tokyo, Japan)
H Tada, H Okada, A Nomura, A Nohara, M Takamura, MA Kawashiri
Publication Date: 2020

Variant appearance in text: PCSK9: 1090_1091del
PMID: 32173689
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1091_1092del p.Pro364Argfs*62 frameshift_variant 7/12 -
ENST00000490692.1 n.1818-3_1818-2del - splice_acceptor_variant,intron_variant,non_coding_transcript_variant - 3/7
ENST00000543384.1 c.491_492del p.Pro164Argfs*62 frameshift_variant 5/10 -
NM_174936.4 c.1091_1092del p.Pro364Argfs*62 frameshift_variant 7/12 -
NR_110451.1 n.750_751del - non_coding_transcript_exon_variant 5/10 -