DSCR4 Down syndrome critical region 4
Clinical Significance
MGeND | ClinVar |
---|
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
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
[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 | DCRB |
SYNONYM | DSCRB |
MIM | 604829 OMIM |
HGNC | HGNC:3045 HGNC |
Ensembl | ENSG00000184029 Ensembl |
AllianceGenome | HGNC:3045 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000328264.7 | hg38 | chr21 | 38,054,011 | 38,121,360 | 67,350 |
ENST00000482032.1 | hg38 | chr21 | 38,093,244 | 38,121,331 | 28,088 |
ENST00000398948.5 | hg38 | chr21 | 37,951,425 | 38,121,339 | 169,915 |
ENST00000398948.5 | hg19 | chr21 | 39,323,728 | 39,493,433 | 169,706 |
ENST00000328264.7 | hg19 | chr21 | 39,426,313 | 39,493,454 | 67,142 |
ENST00000482032.1 | hg19 | chr21 | 39,465,338 | 39,493,425 | 28,088 |
Genome browser