Variant ID: 1-230795321-G-A

NM_007357.2(COG2):c.184G>A;(p.Glu62Lys)

This variant was identified in 1 publication




Publications:


Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.

Plos One
E Grillo, C Lo Rizzo, L Bianciardi, V Bizzarri, M Baldassarri, O Spiga, S Furini, C De Felice, C Signorini, S Leoncini, A Pecorelli, L Ciccoli, MA Mencarelli, J Hayek, I Meloni, F Ariani, F Mari, A Renieri
Publication Date: 2013

Variant appearance in text: COG2: E62K
PubMed Link: 23468869
Variant Present in the following documents:
  • pone.0056599.s001.doc
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000366668.3 c.184G>A p.Glu62Lys missense_variant 2/18 -
ENST00000366669.4 c.184G>A p.Glu62Lys missense_variant 2/18 -
ENST00000468893.2 c.184G>A p.Glu62Lys missense_variant,NMD_transcript_variant 2/19 -
ENST00000473671.1 n.270G>A - non_coding_transcript_exon_variant 2/3 -
ENST00000494371.1 n.302G>A - non_coding_transcript_exon_variant 2/10 -
ENST00000534989.1 c.7G>A p.Glu3Lys missense_variant 2/18 -
ENST00000535166.1 c.-398G>A - 5_prime_UTR_variant 2/19 -
NM_001145036.2 c.184G>A p.Glu62Lys missense_variant 2/18 -
NM_007357.3 c.184G>A p.Glu62Lys missense_variant 2/18 -