DPF2 double PHD fingers 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 14 |
Likely pathogenic | 0 | 14 |
Benign | 0 | 26 |
Likely benign | 0 | 154 |
Conflicting classifications of pathogenicity | 0 | 4 |
Uncertain significance | 0 | 124 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
22 |
![]() |
302 |
![]() |
4 |
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 | CSS7 |
SYNONYM | REQ |
SYNONYM | SMARCG2 |
SYNONYM | UBID4 |
SYNONYM | ubi-d4 |
MIM | 601671 OMIM |
HGNC | HGNC:9964 HGNC |
Ensembl | ENSG00000133884 Ensembl |
AllianceGenome | HGNC:9964 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000703427.1 | hg38 | chr11 | 65,333,882 | 65,353,049 | 19,168 |
ENST00000703424.1 | hg38 | chr11 | 65,333,867 | 65,352,772 | 18,906 |
ENST00000703425.1 | hg38 | chr11 | 65,333,867 | 65,352,939 | 19,073 |
ENST00000415073.6 | hg38 | chr11 | 65,333,855 | 65,353,188 | 19,334 |
ENST00000528416.6 | hg38 | chr11 | 65,333,852 | 65,354,262 | 20,411 |
ENST00000252268.8 | hg38 | chr11 | 65,333,867 | 65,352,983 | 19,117 |
ENST00000530993.6 | hg38 | chr11 | 65,333,858 | 65,352,967 | 19,110 |
ENST00000252268.8 | hg19 | chr11 | 65,101,338 | 65,120,454 | 19,117 |
ENST00000415073.6 | hg19 | chr11 | 65,101,326 | 65,120,659 | 19,334 |
ENST00000528416.6 | hg19 | chr11 | 65,101,323 | 65,121,733 | 20,411 |
ENST00000530993.6 | hg19 | chr11 | 65,101,329 | 65,120,438 | 19,110 |
ENST00000703424.1 | hg19 | chr11 | 65,101,338 | 65,120,243 | 18,906 |
ENST00000703425.1 | hg19 | chr11 | 65,101,338 | 65,120,410 | 19,073 |
ENST00000703427.1 | hg19 | chr11 | 65,101,353 | 65,120,520 | 19,168 |
Genome browser