The BCS1L gene homepage

General information
Gene symbol BCS1L
Gene name BCS1-like (S. cerevisiae)
Chromosome 2
Chromosomal band q35
Imprinted Unknown
Genomic reference NG_008018.1
Transcript reference NM_004328.4
Exon/intron information NM_004328.4 exon/intron table
Associated with diseases BJS, GRACILE, ID, LS, MC3DN, MC3DN1
Citation reference(s) PubMed: Visapää et al. 2002
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 37
Unique public DNA variants reported 36
Individuals with public variants 2
Hidden variants 4
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015.
Date created August 30, 2012
Date last updated May 09, 2022
Version BCS1L:220509

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_004328.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL Finnish Disease Database (FinDis)
HGNC 1020
Entrez Gene 617
PubMed articles BCS1L
OMIM - Gene 603647
OMIM - Diseases BJS (Bjornstad syndrome (BJS))
LS (Leigh syndrome (LS))
MC3DN1 (mitochondrial complex III deficiency, nuclear, type 1 (MC3DN-1)])
GeneCards BCS1L
GeneTests BCS1L
Orphanet BCS1L

Active transcripts




NCBI ID     

NCBI Protein ID     

00000278 2 transcript variant 1 NM_004328.4 NP_004319.1 37

Copyright & disclaimer
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