IFT172 intraflagellar transport 172

Information
Symbol
IFT172
Type
protein-coding
Description
intraflagellar transport 172
Entrez Gene ID
26160
Genome
hg19
Position
chr2:27,667,244-27,712,610
Genome
hg38
Position
chr2:27,444,377-27,489,743
MIM
607386 OMIM
HGNC
HGNC:30391 HGNC
Ensembl
ENSG00000138002 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 148
Likely pathogenic 0 86
Benign 0 130
Likely benign 0 1,232
Conflicting classifications of pathogenicity 0 88
Uncertain significance 0 1,380
Ranking
ClinVar
0
0
736
2,140
22
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 BBS20
SYNONYM NPHP17
SYNONYM RP71
SYNONYM SLB
SYNONYM SRTD10
SYNONYM osm-1
SYNONYM wim
MIM 607386 OMIM
HGNC HGNC:30391 HGNC
Ensembl ENSG00000138002 Ensembl
AllianceGenome HGNC:30391
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000260570.8 hg38 chr2 27,444,377 27,489,743 45,367
ENST00000359466.10 hg38 chr2 27,471,687 27,489,773 18,087
ENST00000675728.1 hg38 chr2 27,472,066 27,486,735 14,670
ENST00000675690.1 hg38 chr2 27,444,377 27,489,754 45,378
ENST00000416524.2 hg38 chr2 27,472,012 27,489,789 17,778
ENST00000260570.8 hg19 chr2 27,667,244 27,712,610 45,367
ENST00000359466.10 hg19 chr2 27,694,554 27,712,640 18,087
ENST00000416524.2 hg19 chr2 27,694,879 27,712,656 17,778
ENST00000675690.1 hg19 chr2 27,667,244 27,712,621 45,378
ENST00000675728.1 hg19 chr2 27,694,933 27,709,602 14,670
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