RSF1 remodeling and spacing factor 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 12 |
| Uncertain significance | 0 | 100 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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112 |
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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
[No Data.]
Locus Zoom
Variants
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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 | |||||||||||
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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
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MGeND data only
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| 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 | HBXAP |
| SYNONYM | RSF-1 |
| SYNONYM | XAP8 |
| SYNONYM | p325 |
| MIM | 608522 OMIM |
| HGNC | HGNC:18118 HGNC |
| Ensembl | ENSG00000048649 Ensembl |
| AllianceGenome | HGNC:18118 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000308488.11 | hg38 | chr11 | 77,660,009 | 77,820,722 | 160,714 |
| ENST00000480887.5 | hg38 | chr11 | 77,666,230 | 77,703,533 | 37,304 |
| ENST00000308488.11 | hg19 | chr11 | 77,371,054 | 77,531,768 | 160,715 |
| ENST00000480887.5 | hg19 | chr11 | 77,377,275 | 77,414,578 | 37,304 |
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