Variant ID: 1-55523042-G-T

NM_174936.3(PCSK9):c.1035G>T;(p.Pro345Pro)

This variant was identified in 1 publication



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

Publications:

Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Journal Of Medical Genetics
SE Humphries, RA Whittall, CS Hubbart, S Maplebeck, JA Cooper, AK Soutar, R Naoumova, GR Thompson, M Seed, PN Durrington, JP Miller, DJ Betteridge, HA Neil,
Publication Date: 2006-12

Variant appearance in text: PCSK9: P345P
PMID: 17142622
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1035G>T p.Pro345= synonymous_variant 7/12 -
ENST00000490692.1 n.1818-59G>T - intron_variant,non_coding_transcript_variant - 3/7
ENST00000543384.1 c.435G>T p.Pro145= synonymous_variant 5/10 -
NM_174936.4 c.1035G>T p.Pro345= synonymous_variant 7/12 -
NR_110451.1 n.694G>T - non_coding_transcript_exon_variant 5/10 -