FKBP14 FKBP prolyl isomerase 14

Information
Symbol
FKBP14
Type
protein-coding
Description
FKBP prolyl isomerase 14
Entrez Gene ID
55033
Genome
hg19
Position
chr7:30,050,203-30,066,318
Genome
hg38
Position
chr7:30,010,587-30,026,702
MIM
614505 OMIM
HGNC
HGNC:18625 HGNC
Ensembl
ENSG00000106080 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 12
Benign 0 32
Likely benign 0 158
Conflicting classifications of pathogenicity 0 6
not provided 0 2
Uncertain significance 0 196
Ranking
ClinVar
0
0
104
282
4
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 :
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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 EDSKMH
SYNONYM EDSKSCL2
SYNONYM FKBP22
SYNONYM IPBP12
MIM 614505 OMIM
HGNC HGNC:18625 HGNC
Ensembl ENSG00000106080 Ensembl
AllianceGenome HGNC:18625
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000222803.10 hg38 chr7 30,010,587 30,026,702 16,116
ENST00000222803.10 hg19 chr7 30,050,203 30,066,318 16,116
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