PARVB parvin beta
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 10 |
Likely benign | 0 | 2 |
not provided | 1 | 0 |
Uncertain significance | 0 | 54 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
66 |
![]() |
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 | CGI-56 |
MIM | 608121 OMIM |
HGNC | HGNC:14653 HGNC |
Ensembl | ENSG00000188677 Ensembl |
AllianceGenome | HGNC:14653 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000619710.4 | hg38 | chr22 | 44,026,304 | 44,169,221 | 142,918 |
ENST00000406477.7 | hg38 | chr22 | 43,999,211 | 44,168,923 | 169,713 |
ENST00000338758.12 | hg38 | chr22 | 44,024,302 | 44,172,939 | 148,638 |
ENST00000404989.1 | hg38 | chr22 | 44,069,061 | 44,169,184 | 100,124 |
ENST00000406477.7 | hg19 | chr22 | 44,395,091 | 44,564,803 | 169,713 |
ENST00000338758.12 | hg19 | chr22 | 44,420,182 | 44,568,819 | 148,638 |
ENST00000619710.4 | hg19 | chr22 | 44,422,184 | 44,565,101 | 142,918 |
ENST00000404989.1 | hg19 | chr22 | 44,464,941 | 44,565,064 | 100,124 |
Genome browser