FZR1 fizzy and cell division cycle 20 related 1

Information
Symbol
FZR1
Type
protein-coding
Description
fizzy and cell division cycle 20 related 1
Entrez Gene ID
51343
Genome
hg19
Position
chr19:3,522,988-3,534,834
Genome
hg38
Position
chr19:3,522,990-3,534,836
MIM
603619 OMIM
HGNC
HGNC:24824 HGNC
Ensembl
ENSG00000105325 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 2
Benign 0 2
Likely benign 0 6
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
48
8
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
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MGeND data only
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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 :
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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MGeND data only
Category :
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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 CDC20C
SYNONYM CDH1
SYNONYM DEE109
SYNONYM FZR
SYNONYM FZR2
SYNONYM HCDH
SYNONYM HCDH1
MIM 603619 OMIM
HGNC HGNC:24824 HGNC
Ensembl ENSG00000105325 Ensembl
AllianceGenome HGNC:24824
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000395095.7 hg38 chr19 3,522,990 3,534,836 11,847
ENST00000441788.7 hg38 chr19 3,506,311 3,538,334 32,024
ENST00000313639.8 hg38 chr19 3,522,990 3,534,836 11,847
ENST00000652521.1 hg38 chr19 3,506,363 3,536,002 29,640
ENST00000441788.7 hg19 chr19 3,506,309 3,538,332 32,024
ENST00000652521.1 hg19 chr19 3,506,361 3,536,000 29,640
ENST00000313639.8 hg19 chr19 3,522,988 3,534,834 11,847
ENST00000395095.7 hg19 chr19 3,522,988 3,534,834 11,847
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