FTL ferritin light chain

Information
Symbol
FTL
Type
protein-coding
Description
ferritin light chain
Entrez Gene ID
2512
Genome
hg19
Position
chr19:49,468,566-49,470,136
Genome
hg38
Position
chr19:48,965,309-48,966,879
MIM
134790 OMIM
HGNC
HGNC:3999 HGNC
Ensembl
ENSG00000087086 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 42
Likely pathogenic 0 16
Benign 2 16
Likely benign 0 58
Conflicting classifications of pathogenicity 0 12
no classification for the single variant 0 2
not provided 0 4
Uncertain significance 0 188
Ranking
ClinVar
0
0
42
248
16
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM FTL1
SYNONYM LFTD
SYNONYM NBIA3
MIM 134790 OMIM
HGNC HGNC:3999 HGNC
Ensembl ENSG00000087086 Ensembl
AllianceGenome HGNC:3999
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000331825.11 hg38 chr19 48,965,309 48,966,879 1,571
ENST00000331825.11 hg19 chr19 49,468,566 49,470,136 1,571
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