Variant ID: 1-55509687-AG-TT

NM_174936.3(PCSK9):c.379_380delinsTT;(p.Ser127Phe)

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: S127F
PMID: 29724976
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.379_380delinsTT p.Ser127Phe missense_variant 2/12 -
ENST00000452118.2 c.379_380delinsTT p.Ser127Phe missense_variant 2/6 -
ENST00000543384.1 c.-78+3611_-78+3612delinsTT - intron_variant - 1/9
NM_174936.4 c.379_380delinsTT p.Ser127Phe missense_variant 2/12 -
NR_110451.1 n.182+3611_182+3612delinsTT - intron_variant,non_coding_transcript_variant - 1/9