ITGA3 integrin subunit alpha 3
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 10 |
Likely pathogenic | 0 | 24 |
Benign | 0 | 147 |
Likely benign | 0 | 332 |
Conflicting classifications of pathogenicity | 0 | 8 |
Uncertain significance | 0 | 202 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
124 |
![]() |
537 |
![]() |
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
[No Data.]
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 | CD49C |
SYNONYM | FRP-2 |
SYNONYM | GAP-B3 |
SYNONYM | GAPB3 |
SYNONYM | ILNEB |
SYNONYM | JEB7 |
SYNONYM | MSK18 |
SYNONYM | VCA-2 |
SYNONYM | VL3A |
SYNONYM | VLA3a |
MIM | 605025 OMIM |
HGNC | HGNC:6139 HGNC |
Ensembl | ENSG00000005884 Ensembl |
AllianceGenome | HGNC:6139 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000320031.13 | hg38 | chr17 | 50,056,110 | 50,090,481 | 34,372 |
ENST00000007722.11 | hg38 | chr17 | 50,056,440 | 50,089,729 | 33,290 |
ENST00000320031.13 | hg19 | chr17 | 48,133,474 | 48,167,845 | 34,372 |
ENST00000007722.11 | hg19 | chr17 | 48,133,804 | 48,167,093 | 33,290 |
Genome browser