Variant ID: 1-55518007-C-T

NM_174936.3(PCSK9):c.580C>T;(p.Arg194Trp)

This variant was identified in 1 publication



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

Publications:

Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.

American Journal Of Human Genetics
AC Need, JP McEvoy, M Gennarelli, EL Heinzen, D Ge, JM Maia, KV Shianna, M He, ET Cirulli, CE Gumbs, Q Zhao, CR Campbell, L Hong, P Rosenquist, A Putkonen, T Hallikainen, E Repo-Tiihonen, J Tiihonen, DL Levy, HY Meltzer, DB Goldstein
Publication Date: 2012-08-10

Variant appearance in text: PCSK9: 580C>T; Arg194Trp
PMID: 22863191
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.580C>T p.Arg194Trp missense_variant 4/12 -
ENST00000452118.2 c.*224C>T - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1401C>T - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.-21C>T - 5_prime_UTR_variant 2/10 -
NM_174936.4 c.580C>T p.Arg194Trp missense_variant 4/12 -
NR_110451.1 n.239C>T - non_coding_transcript_exon_variant 2/10 -