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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 MartÃn, 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
-