STS steroid sulfatase
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 16 |
Likely pathogenic | 0 | 10 |
Benign | 0 | 60 |
Likely benign | 0 | 52 |
Conflicting classifications of pathogenicity | 0 | 8 |
not provided | 10 | 0 |
Uncertain significance | 0 | 80 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
26 |
![]() |
164 |
![]() |
10 |
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 | ARSC |
SYNONYM | ARSC1 |
SYNONYM | ASC |
SYNONYM | ES |
SYNONYM | SSDD |
SYNONYM | XLI |
MIM | 300747 OMIM |
HGNC | HGNC:11425 HGNC |
Ensembl | ENSG00000101846 Ensembl |
AllianceGenome | HGNC:11425 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000660000.2 | hg38 | chrX | 7,147,977 | 7,453,758 | 305,782 |
ENST00000217961.5 | hg38 | chrX | 7,219,456 | 7,354,810 | 135,355 |
ENST00000666110.2 | hg38 | chrX | 7,147,291 | 7,354,626 | 207,336 |
ENST00000674429.1 | hg38 | chrX | 7,147,712 | 7,354,641 | 206,930 |
ENST00000666110.2 | hg19 | chrX | 7,065,332 | 7,272,667 | 207,336 |
ENST00000674429.1 | hg19 | chrX | 7,065,753 | 7,272,682 | 206,930 |
ENST00000660000.2 | hg19 | chrX | 7,066,018 | 7,371,799 | 305,782 |
ENST00000217961.5 | hg19 | chrX | 7,137,497 | 7,272,851 | 135,355 |
Genome browser