Variant ID: 1-230822756-TC-AA

NM_007357.2(COG2):c.1456_1457delinsAA;(p.Ser486Asn)

This variant was identified in 1 publication




Publications:


Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment.

Inflammation
Y Wu, TW McDade, CW Kuzawa, J Borja, Y Li, LS Adair, KL Mohlke, LA Lange
Publication Date: 2012-04

Variant appearance in text: LDLC: Ser486Asn
PubMed Link: 21647738
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000366668.3 c.1456_1457delinsAA p.Ser486Asn missense_variant 13/18 -
ENST00000366669.4 c.1456_1457delinsAA p.Ser486Asn missense_variant 13/18 -
ENST00000468893.2 c.*1314_*1315delinsAA - 3_prime_UTR_variant,NMD_transcript_variant 14/19 -
ENST00000482012.1 n.346_347delinsAA - non_coding_transcript_exon_variant 3/5 -
ENST00000534989.1 c.1279_1280delinsAA p.Ser427Asn missense_variant 13/18 -
ENST00000535166.1 c.1108_1109delinsAA p.Ser370Asn missense_variant 14/19 -
ENST00000546013.1 c.523_524delinsAA p.Ser175Asn missense_variant 5/10 -
NM_001145036.2 c.1456_1457delinsAA p.Ser486Asn missense_variant 13/18 -
NM_007357.3 c.1456_1457delinsAA p.Ser486Asn missense_variant 13/18 -