View FTL gene homepage

General information
Gene symbol FTL
Gene name ferritin, light polypeptide
Chromosome 19
Chromosomal band q13.33
Imprinted Unknown
Genomic reference NG_008152.1
Transcript reference NM_000146.3
Exon/intron information NM_000146.3
Associated with diseases HHCS, LFTD, NBIA-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 13
Unique public DNA variants reported 9
Individuals with public variants 91
Hidden variants 0
Date created May 03, 2013
Date last updated November 30, 2014
Version FTL:141130

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 http://www.LOVD.nl/FTL
HGNC 3999
Entrez Gene 2512
PubMed articles FTL
OMIM - Gene 134790
OMIM - Diseases HHCS (hyperferritinemia, with/without cataract (HHCS))
LFTD (L-ferritin deficiency (LFTD))
NBIA-3 (neurodegeneration, with brain iron accumulation, type 3 (NBIA-3))
HGMD FTL
GeneCards FTL
GeneTests FTL


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00008183 19 ferritin, light polypeptide NM_000146.3 NP_000137.2 13


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