FSCN2 fascin actin-bundling protein 2, retinal

Information
Symbol
FSCN2
Type
protein-coding
Description
fascin actin-bundling protein 2, retinal
Entrez Gene ID
25794
Genome
hg19
Position
chr17:79,495,558-79,504,106
Genome
hg38
Position
chr17:81,528,532-81,537,080
MIM
607643 OMIM
HGNC
HGNC:3960 HGNC
Ensembl
ENSG00000186765 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 0
Likely pathogenic 0 6
Benign 2 64
Likely benign 0 406
Conflicting classifications of pathogenicity 0 50
Uncertain significance 0 734
Ranking
ClinVar
0
0
176
1,010
2
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 RFSN
SYNONYM RP30
MIM 607643 OMIM
HGNC HGNC:3960 HGNC
Ensembl ENSG00000186765 Ensembl
AllianceGenome HGNC:3960
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000334850.7 hg38 chr17 81,528,532 81,537,080 8,549
ENST00000417245.7 hg38 chr17 81,528,377 81,537,130 8,754
ENST00000417245.7 hg19 chr17 79,495,403 79,504,156 8,754
ENST00000334850.7 hg19 chr17 79,495,558 79,504,106 8,549
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