ARSL arylsulfatase L
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 1 | 32 |
Likely pathogenic | 0 | 36 |
Benign | 0 | 152 |
Likely benign | 0 | 428 |
Conflicting classifications of pathogenicity | 0 | 30 |
not provided | 8 | 4 |
Uncertain significance | 0 | 146 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
90 |
![]() |
660 |
![]() |
12 |
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 | ARSE |
SYNONYM | ASE |
SYNONYM | CDPX |
SYNONYM | CDPX1 |
SYNONYM | CDPXR |
MIM | 300180 OMIM |
HGNC | HGNC:719 HGNC |
Ensembl | ENSG00000157399 Ensembl |
AllianceGenome | HGNC:719 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000683958.1 | hg38 | chrX | 2,936,573 | 2,964,606 | 28,034 |
ENST00000684738.1 | hg38 | chrX | 2,934,832 | 2,964,263 | 29,432 |
ENST00000682184.1 | hg38 | chrX | 2,934,045 | 2,964,280 | 30,236 |
ENST00000672097.1 | hg38 | chrX | 2,934,640 | 2,968,475 | 33,836 |
ENST00000540563.6 | hg38 | chrX | 2,934,520 | 2,968,301 | 33,782 |
ENST00000672027.1 | hg38 | chrX | 2,934,832 | 2,968,245 | 33,414 |
ENST00000672761.1 | hg38 | chrX | 2,934,658 | 2,968,245 | 33,588 |
ENST00000381134.9 | hg38 | chrX | 2,934,521 | 2,964,341 | 29,821 |
ENST00000684364.1 | hg38 | chrX | 2,934,045 | 2,964,288 | 30,244 |
ENST00000673032.1 | hg38 | chrX | 2,934,521 | 2,968,276 | 33,756 |
ENST00000683290.1 | hg38 | chrX | 2,934,045 | 2,964,288 | 30,244 |
ENST00000682364.1 | hg38 | chrX | 2,934,832 | 2,964,288 | 29,457 |
ENST00000684077.1 | hg38 | chrX | 2,934,832 | 2,960,400 | 25,569 |
ENST00000545496.6 | hg38 | chrX | 2,934,811 | 2,964,284 | 29,474 |
ENST00000683677.1 | hg38 | chrX | 2,934,045 | 2,964,288 | 30,244 |
ENST00000681963.1 | hg38 | chrX | 2,934,045 | 2,964,252 | 30,208 |
ENST00000684117.1 | hg38 | chrX | 2,934,045 | 2,968,245 | 34,201 |
ENST00000381134.9 | hg19 | chrX | 2,852,562 | 2,882,382 | 29,821 |
ENST00000672097.1 | hg19 | chrX | 2,852,681 | 2,886,516 | 33,836 |
ENST00000540563.6 | hg19 | chrX | 2,852,561 | 2,886,342 | 33,782 |
ENST00000545496.6 | hg19 | chrX | 2,852,852 | 2,882,325 | 29,474 |
ENST00000672027.1 | hg19 | chrX | 2,852,873 | 2,886,286 | 33,414 |
ENST00000673032.1 | hg19 | chrX | 2,852,562 | 2,886,317 | 33,756 |
ENST00000683290.1 | hg19 | chrX | 2,852,086 | 2,882,329 | 30,244 |
ENST00000683677.1 | hg19 | chrX | 2,852,086 | 2,882,329 | 30,244 |
ENST00000672761.1 | hg19 | chrX | 2,852,699 | 2,886,286 | 33,588 |
ENST00000682184.1 | hg19 | chrX | 2,852,086 | 2,882,321 | 30,236 |
ENST00000682364.1 | hg19 | chrX | 2,852,873 | 2,882,329 | 29,457 |
ENST00000681963.1 | hg19 | chrX | 2,852,086 | 2,882,293 | 30,208 |
ENST00000683958.1 | hg19 | chrX | 2,854,614 | 2,882,647 | 28,034 |
ENST00000684077.1 | hg19 | chrX | 2,852,873 | 2,878,441 | 25,569 |
ENST00000684117.1 | hg19 | chrX | 2,852,086 | 2,886,286 | 34,201 |
ENST00000684364.1 | hg19 | chrX | 2,852,086 | 2,882,329 | 30,244 |
ENST00000684738.1 | hg19 | chrX | 2,852,873 | 2,882,304 | 29,432 |
Genome browser