DGCR5 DiGeorge syndrome critical region gene 5
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
not provided | 14 | 0 |
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
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 | DGCR10 |
SYNONYM | DGCR9 |
SYNONYM | DGS-A |
SYNONYM | DGS-B |
SYNONYM | LINC00037 |
SYNONYM | NCRNA00037 |
SYNONYM | POM121L5P |
SYNONYM | RIP |
MIM | 618040 OMIM |
HGNC | HGNC:16757 HGNC |
Ensembl | ENSG00000273032 Ensembl |
AllianceGenome | HGNC:16757 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000675671.1 | hg38 | chr22 | 18,970,484 | 19,020,665 | 50,182 |
ENST00000438934.5 | hg38 | chr22 | 18,970,514 | 18,994,628 | 24,115 |
ENST00000675671.1 | hg19 | chr22 | 18,957,997 | 19,008,178 | 50,182 |
ENST00000438934.5 | hg19 | chr22 | 18,958,027 | 18,982,141 | 24,115 |
Genome browser