Variant ID: 1-55518073-TT-CG

NM_174936.3(PCSK9):c.646_647delinsCG;(p.Phe216Arg)

This variant was identified in 1 publication



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

Publications:

Case-control study on PCSK9 R496W (rs374603772) and D374Y (rs137852912) mutations in Turkish patients with primary dyslipidemia.

Anatolian Journal Of Cardiology
Z Eroğlu, A Tetik Vardarlı, Z Düzgün, C Gündüz, V Bozok Çetintaş, M Kayıkçıoğlu
Publication Date: 2018-05

Variant appearance in text: PCSK9: F216R
PMID: 29724976
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.646_647delinsCG p.Phe216Arg missense_variant 4/12 -
ENST00000452118.2 c.*290_*291delinsCG - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1467_1468delinsCG - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.46_47delinsCG p.Phe16Arg missense_variant 2/10 -
NM_174936.4 c.646_647delinsCG p.Phe216Arg missense_variant 4/12 -
NR_110451.1 n.305_306delinsCG - non_coding_transcript_exon_variant 2/10 -