FUZ fuzzy planar cell polarity protein

Information
Symbol
FUZ
Type
protein-coding
Description
fuzzy planar cell polarity protein
Entrez Gene ID
80199
Genome
hg19
Position
chr19:50,310,123-50,316,549
Genome
hg38
Position
chr19:49,806,866-49,813,292
MIM
610622 OMIM
HGNC
HGNC:26219 HGNC
Ensembl
ENSG00000010361 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 16
Likely benign 0 24
Conflicting classifications of pathogenicity 0 2
risk factor 0 6
Uncertain significance 0 64
Uncertain significance; association 0 2
Ranking
ClinVar
0
0
10
78
24
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 :
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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 :
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 CPLANE3
SYNONYM FY
SYNONYM NTD
MIM 610622 OMIM
HGNC HGNC:26219 HGNC
Ensembl ENSG00000010361 Ensembl
AllianceGenome HGNC:26219
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000533418.5 hg38 chr19 49,806,890 49,813,249 6,360
ENST00000526575.1 hg38 chr19 49,811,384 49,813,178 1,795
ENST00000528094.5 hg38 chr19 49,806,890 49,813,175 6,286
ENST00000313777.9 hg38 chr19 49,806,866 49,813,292 6,427
ENST00000313777.9 hg19 chr19 50,310,123 50,316,549 6,427
ENST00000526575.1 hg19 chr19 50,314,641 50,316,435 1,795
ENST00000528094.5 hg19 chr19 50,310,147 50,316,432 6,286
ENST00000533418.5 hg19 chr19 50,310,147 50,316,506 6,360
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