FBLN7 fibulin 7

Information
Symbol
FBLN7
Type
protein-coding
Description
fibulin 7
Entrez Gene ID
129804
Genome
hg19
Position
chr2:112,895,962-112,945,795
Genome
hg38
Position
chr2:112,138,385-112,188,218
MIM
611551 OMIM
HGNC
HGNC:26740 HGNC
Ensembl
ENSG00000144152 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
Uncertain significance 0 54
Ranking
ClinVar
0
0
0
62
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 TM14
MIM 611551 OMIM
HGNC HGNC:26740 HGNC
Ensembl ENSG00000144152 Ensembl
AllianceGenome HGNC:26740
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000331203.7 hg38 chr2 112,138,385 112,188,218 49,834
ENST00000409667.7 hg38 chr2 112,138,583 112,187,639 49,057
ENST00000409450.7 hg38 chr2 112,138,583 112,187,645 49,063
ENST00000409903.5 hg38 chr2 112,138,426 112,188,198 49,773
ENST00000331203.7 hg19 chr2 112,895,962 112,945,795 49,834
ENST00000409903.5 hg19 chr2 112,896,003 112,945,775 49,773
ENST00000409667.7 hg19 chr2 112,896,160 112,945,216 49,057
ENST00000409450.7 hg19 chr2 112,896,160 112,945,222 49,063
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