Variant ID: 1-230824171-C-G

NM_007357.2(COG2):c.1657C>G;(p.Leu553Val)

This variant was identified in 1 publication




Publications:


Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).

Plos One
AJ Cox, BW Darbro, RM Laxer, G Velez, X Bing, AL Finer, A Erives, VB Mahajan, AG Bassuk, PJ Ferguson
Publication Date: 2017

Variant appearance in text: COG2: Leu553Val; rs201551743
PubMed Link: 28301468
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000366668.3 c.1654C>G p.Leu552Val missense_variant,splice_region_variant 15/18 -
ENST00000366669.4 c.1657C>G p.Leu553Val missense_variant 15/18 -
ENST00000468893.2 c.*1515C>G - 3_prime_UTR_variant,NMD_transcript_variant 16/19 -
ENST00000482012.1 n.547C>G - non_coding_transcript_exon_variant 5/5 -
ENST00000490900.1 n.436C>G - non_coding_transcript_exon_variant 1/2 -
ENST00000534989.1 c.1480C>G p.Leu494Val missense_variant 15/18 -
ENST00000535166.1 c.1309C>G p.Leu437Val missense_variant 16/19 -
ENST00000546013.1 c.724C>G p.Leu242Val missense_variant 7/10 -
NM_001145036.2 c.1654C>G p.Leu552Val missense_variant,splice_region_variant 15/18 -
NM_007357.3 c.1657C>G p.Leu553Val missense_variant 15/18 -