IFT56 intraflagellar transport 56

Information
Symbol
IFT56
Type
protein-coding
Description
intraflagellar transport 56
Entrez Gene ID
79989
Genome
hg19
Position
chr7:138,818,524-138,876,732
Genome
hg38
Position
chr7:139,133,778-139,191,986
MIM
617453 OMIM
HGNC
HGNC:21882 HGNC
Ensembl
ENSG00000105948 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 4
Benign 0 16
Likely benign 0 26
Uncertain significance 0 40
Ranking
ClinVar
0
0
2
86
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
[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 BRENS
SYNONYM DYF13
SYNONYM TTC26
SYNONYM dyf-13
MIM 617453 OMIM
HGNC HGNC:21882 HGNC
Ensembl ENSG00000105948 Ensembl
AllianceGenome HGNC:21882
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000464848.5 hg38 chr7 139,133,778 139,191,986 58,209
ENST00000478836.6 hg38 chr7 139,133,778 139,189,802 56,025
ENST00000474035.6 hg38 chr7 139,133,778 139,161,343 27,566
ENST00000343187.8 hg38 chr7 139,133,783 139,189,800 56,018
ENST00000495038.5 hg38 chr7 139,133,764 139,189,665 55,902
ENST00000430935.5 hg38 chr7 139,133,744 139,191,985 58,242
ENST00000430935.5 hg19 chr7 138,818,490 138,876,731 58,242
ENST00000495038.5 hg19 chr7 138,818,510 138,874,411 55,902
ENST00000474035.6 hg19 chr7 138,818,524 138,846,089 27,566
ENST00000478836.6 hg19 chr7 138,818,524 138,874,548 56,025
ENST00000464848.5 hg19 chr7 138,818,524 138,876,732 58,209
ENST00000343187.8 hg19 chr7 138,818,529 138,874,546 56,018
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