TSPAN31 tetraspanin 31
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 3 | 34 |
Likely benign | 1 | 290 |
Conflicting classifications of pathogenicity | 0 | 48 |
not provided | 35 | 0 |
Uncertain significance | 9 | 418 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
238 |
![]() |
494 |
![]() |
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 | SAS |
MIM | 181035 OMIM |
HGNC | HGNC:10539 HGNC |
Ensembl | ENSG00000135452 Ensembl |
AllianceGenome | HGNC:10539 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000547472.5 | hg38 | chr12 | 57,745,066 | 57,747,292 | 2,227 |
ENST00000257910.8 | hg38 | chr12 | 57,745,039 | 57,750,219 | 5,181 |
ENST00000547992.5 | hg38 | chr12 | 57,745,023 | 57,750,211 | 5,189 |
ENST00000547992.5 | hg19 | chr12 | 58,138,806 | 58,143,994 | 5,189 |
ENST00000257910.8 | hg19 | chr12 | 58,138,822 | 58,144,002 | 5,181 |
ENST00000547472.5 | hg19 | chr12 | 58,138,849 | 58,141,075 | 2,227 |
Genome browser