IFT27 intraflagellar transport 27

Information
Symbol
IFT27
Type
protein-coding
Description
intraflagellar transport 27
Entrez Gene ID
11020
Genome
hg19
Position
chr22:37,154,255-37,172,163
Genome
hg38
Position
chr22:36,758,211-36,776,119
MIM
615870 OMIM
HGNC
HGNC:18626 HGNC
Ensembl
ENSG00000100360 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 6
Benign 0 16
Likely benign 0 120
Conflicting classifications of pathogenicity 0 14
Uncertain significance 0 128
Ranking
ClinVar
0
0
42
240
6
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 BBS19
SYNONYM CFAP156
SYNONYM FAP156
SYNONYM RABL4
SYNONYM RAYL
MIM 615870 OMIM
HGNC HGNC:18626 HGNC
Ensembl ENSG00000100360 Ensembl
AllianceGenome HGNC:18626
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000433985.7 hg38 chr22 36,758,211 36,776,119 17,909
ENST00000340630.9 hg38 chr22 36,758,202 36,776,153 17,952
ENST00000340630.9 hg19 chr22 37,154,246 37,172,197 17,952
ENST00000433985.7 hg19 chr22 37,154,255 37,172,163 17,909
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