IFTAP intraflagellar transport associated protein
Information
- Symbol
- IFTAP
- Type
- protein-coding
- Description
- intraflagellar transport associated protein
- Entrez Gene ID
- 119710
- Genome
- hg19
- Position
- chr11:36,616,096-36,680,841
- Genome
- hg38
- Position
- chr11:36,594,546-36,659,291
- MIM
- 619270 OMIM
- HGNC
- HGNC:25142 HGNC
- Ensembl
- ENSG00000166352 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 2 |
not provided | 1 | 0 |
Uncertain significance | 0 | 12 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
2 |
![]() |
18 |
![]() |
0 |
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 |
Type | ID |
---|---|
SYNONYM | C11orf74 |
SYNONYM | HEPIS |
SYNONYM | NWC |
MIM | 619270 OMIM |
HGNC | HGNC:25142 HGNC |
Ensembl | ENSG00000166352 Ensembl |
AllianceGenome | HGNC:25142 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000678060.1 | hg38 | chr11 | 36,594,369 | 36,659,272 | 64,904 |
ENST00000677808.1 | hg38 | chr11 | 36,594,499 | 36,659,272 | 64,774 |
ENST00000677406.1 | hg38 | chr11 | 36,610,104 | 36,659,268 | 49,165 |
ENST00000446510.6 | hg38 | chr11 | 36,594,493 | 36,659,290 | 64,798 |
ENST00000530697.6 | hg38 | chr11 | 36,594,540 | 36,659,272 | 64,733 |
ENST00000678950.1 | hg38 | chr11 | 36,594,540 | 36,651,020 | 56,481 |
ENST00000531554.6 | hg38 | chr11 | 36,594,502 | 36,659,287 | 64,786 |
ENST00000347206.8 | hg38 | chr11 | 36,594,513 | 36,659,272 | 64,760 |
ENST00000334307.10 | hg38 | chr11 | 36,594,502 | 36,659,272 | 64,771 |
ENST00000532470.3 | hg38 | chr11 | 36,594,546 | 36,659,291 | 64,746 |
ENST00000534635.5 | hg38 | chr11 | 36,594,516 | 36,659,274 | 64,759 |
ENST00000617650.5 | hg38 | chr11 | 36,594,501 | 36,659,289 | 64,789 |
ENST00000676979.1 | hg38 | chr11 | 36,594,499 | 36,659,272 | 64,774 |
ENST00000527108.6 | hg38 | chr11 | 36,594,546 | 36,659,269 | 64,724 |
ENST00000676921.1 | hg38 | chr11 | 36,594,539 | 36,650,464 | 55,926 |
ENST00000679022.1 | hg38 | chr11 | 36,594,508 | 36,648,967 | 54,460 |
ENST00000678060.1 | hg19 | chr11 | 36,615,919 | 36,680,822 | 64,904 |
ENST00000334307.10 | hg19 | chr11 | 36,616,052 | 36,680,822 | 64,771 |
ENST00000347206.8 | hg19 | chr11 | 36,616,063 | 36,680,822 | 64,760 |
ENST00000446510.6 | hg19 | chr11 | 36,616,043 | 36,680,840 | 64,798 |
ENST00000527108.6 | hg19 | chr11 | 36,616,096 | 36,680,819 | 64,724 |
ENST00000530697.6 | hg19 | chr11 | 36,616,090 | 36,680,822 | 64,733 |
ENST00000531554.6 | hg19 | chr11 | 36,616,052 | 36,680,837 | 64,786 |
ENST00000532470.3 | hg19 | chr11 | 36,616,096 | 36,680,841 | 64,746 |
ENST00000534635.5 | hg19 | chr11 | 36,616,066 | 36,680,824 | 64,759 |
ENST00000617650.5 | hg19 | chr11 | 36,616,051 | 36,680,839 | 64,789 |
ENST00000676921.1 | hg19 | chr11 | 36,616,089 | 36,672,014 | 55,926 |
ENST00000677406.1 | hg19 | chr11 | 36,631,654 | 36,680,818 | 49,165 |
ENST00000677808.1 | hg19 | chr11 | 36,616,049 | 36,680,822 | 64,774 |
ENST00000676979.1 | hg19 | chr11 | 36,616,049 | 36,680,822 | 64,774 |
ENST00000678950.1 | hg19 | chr11 | 36,616,090 | 36,672,570 | 56,481 |
ENST00000679022.1 | hg19 | chr11 | 36,616,058 | 36,670,517 | 54,460 |
Genome browser