Variant ID: 1-55505613-G-T

NM_174936.3(PCSK9):c.103G>T;(p.Asp35Tyr)

This variant was identified in 1 publication



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

Publications:

Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.

Scientific Reports
MD Di Taranto, A Benito-Vicente, C Giacobbe, KB Uribe, P Rubba, A Etxebarria, O Guardamagna, M Gentile, C Martín, G Fortunato
Publication Date: 2017-11-10

Variant appearance in text: PCSK9: 103G>T; Asp35Tyr; rs764603059
PMID: 29127338
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.103G>T p.Asp35Tyr missense_variant 1/12 -
ENST00000452118.2 c.103G>T p.Asp35Tyr missense_variant 1/6 -
NM_174936.4 c.103G>T p.Asp35Tyr missense_variant 1/12 -