ACP5 acid phosphatase 5, tartrate resistant
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 4 | 62 |
Likely pathogenic | 0 | 10 |
Benign | 0 | 34 |
Likely benign | 0 | 190 |
Conflicting classifications of pathogenicity | 0 | 10 |
Uncertain significance | 0 | 294 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
88 |
![]() |
482 |
![]() |
8 |
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 | HPAP |
SYNONYM | TRACP5a |
SYNONYM | TRACP5b |
SYNONYM | TRAP |
SYNONYM | TRAcP |
SYNONYM | TrATPase |
MIM | 171640 OMIM |
HGNC | HGNC:124 HGNC |
Ensembl | ENSG00000102575 Ensembl |
AllianceGenome | HGNC:124 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000695809.1 | hg38 | chr19 | 11,574,660 | 11,578,961 | 4,302 |
ENST00000695817.1 | hg38 | chr19 | 11,574,742 | 11,578,970 | 4,229 |
ENST00000695810.1 | hg38 | chr19 | 11,574,660 | 11,578,961 | 4,302 |
ENST00000695811.1 | hg38 | chr19 | 11,574,660 | 11,578,981 | 4,322 |
ENST00000590832.2 | hg38 | chr19 | 11,574,660 | 11,577,527 | 2,868 |
ENST00000695814.1 | hg38 | chr19 | 11,574,660 | 11,578,982 | 4,323 |
ENST00000695815.1 | hg38 | chr19 | 11,574,660 | 11,578,990 | 4,331 |
ENST00000695813.1 | hg38 | chr19 | 11,574,660 | 11,578,982 | 4,323 |
ENST00000695820.1 | hg38 | chr19 | 11,574,660 | 11,578,963 | 4,304 |
ENST00000592828.7 | hg38 | chr19 | 11,574,653 | 11,578,987 | 4,335 |
ENST00000591319.2 | hg38 | chr19 | 11,574,660 | 11,579,008 | 4,349 |
ENST00000695821.1 | hg38 | chr19 | 11,574,753 | 11,578,954 | 4,202 |
ENST00000649386.2 | hg38 | chr19 | 11,574,660 | 11,578,988 | 4,329 |
ENST00000412435.7 | hg38 | chr19 | 11,574,660 | 11,579,030 | 4,371 |
ENST00000592659.2 | hg38 | chr19 | 11,574,660 | 11,578,954 | 4,295 |
ENST00000695791.1 | hg38 | chr19 | 11,574,660 | 11,578,786 | 4,127 |
ENST00000648477.1 | hg38 | chr19 | 11,574,660 | 11,577,645 | 2,986 |
ENST00000589792.6 | hg38 | chr19 | 11,574,660 | 11,578,963 | 4,304 |
ENST00000218758.10 | hg38 | chr19 | 11,574,660 | 11,579,107 | 4,448 |
ENST00000590832.2 | hg19 | chr19 | 11,685,475 | 11,688,342 | 2,868 |
ENST00000218758.10 | hg19 | chr19 | 11,685,475 | 11,689,922 | 4,448 |
ENST00000412435.7 | hg19 | chr19 | 11,685,475 | 11,689,845 | 4,371 |
ENST00000589792.6 | hg19 | chr19 | 11,685,475 | 11,689,778 | 4,304 |
ENST00000591319.2 | hg19 | chr19 | 11,685,475 | 11,689,823 | 4,349 |
ENST00000592828.7 | hg19 | chr19 | 11,685,468 | 11,689,802 | 4,335 |
ENST00000648477.1 | hg19 | chr19 | 11,685,475 | 11,688,460 | 2,986 |
ENST00000695791.1 | hg19 | chr19 | 11,685,475 | 11,689,601 | 4,127 |
ENST00000592659.2 | hg19 | chr19 | 11,685,475 | 11,689,769 | 4,295 |
ENST00000695810.1 | hg19 | chr19 | 11,685,475 | 11,689,776 | 4,302 |
ENST00000649386.2 | hg19 | chr19 | 11,685,475 | 11,689,803 | 4,329 |
ENST00000695809.1 | hg19 | chr19 | 11,685,475 | 11,689,776 | 4,302 |
ENST00000695811.1 | hg19 | chr19 | 11,685,475 | 11,689,796 | 4,322 |
ENST00000695814.1 | hg19 | chr19 | 11,685,475 | 11,689,797 | 4,323 |
ENST00000695813.1 | hg19 | chr19 | 11,685,475 | 11,689,797 | 4,323 |
ENST00000695815.1 | hg19 | chr19 | 11,685,475 | 11,689,805 | 4,331 |
ENST00000695817.1 | hg19 | chr19 | 11,685,557 | 11,689,785 | 4,229 |
ENST00000695821.1 | hg19 | chr19 | 11,685,568 | 11,689,769 | 4,202 |
ENST00000695820.1 | hg19 | chr19 | 11,685,475 | 11,689,778 | 4,304 |
Genome browser