FRRS1L gene homepage

General information
Gene symbol FRRS1L
Gene name ferric-chelate reductase 1-like
Chromosome 9
Chromosomal band q31.1-q31.2
Imprinted Unknown
Genomic reference NG_051235.1
Transcript reference NM_014334.2
Exon/intron information NM_014334.2 exon/intron table
Associated with diseases EIEE-37
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 11
Unique public DNA variants reported 6
Individuals with public variants 8
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated June 24, 2017
Version FRRS1L:170624

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_014334.2.
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
Homepage URL https://www.LOVD.nl/FRRS1L
HGNC 1362
Entrez Gene 23732
PubMed articles FRRS1L
OMIM - Gene 604574
OMIM - Diseases EIEE-37 (encephalopathy, epileptic, early infantile, type 37 (EIEE-37))
HGMD FRRS1L
GeneCards FRRS1L
GeneTests FRRS1L


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00008156 9 ferric-chelate reductase 1-like NM_014334.2 NP_055149.2 11


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