GREM1 gremlin 1, DAN family BMP antagonist
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 116 |
| Likely benign | 0 | 222 |
| Conflicting classifications of pathogenicity | 0 | 8 |
| not provided | 1 | 0 |
| Uncertain significance | 2 | 248 |
Ranking
| ClinVar | |
|---|---|
![]() |
0 |
![]() |
0 |
![]() |
26 |
![]() |
552 |
![]() |
8 |
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 | C15DUPq |
| SYNONYM | CKTSF1B1 |
| SYNONYM | CRAC1 |
| SYNONYM | CRCS4 |
| SYNONYM | DAND2 |
| SYNONYM | DRM |
| SYNONYM | DUP15q |
| SYNONYM | GREMLIN |
| SYNONYM | HMPS |
| SYNONYM | HMPS1 |
| SYNONYM | IHG-2 |
| SYNONYM | MPSH |
| SYNONYM | PIG2 |
| MIM | 603054 OMIM |
| HGNC | HGNC:2001 HGNC |
| Ensembl | ENSG00000166923 Ensembl |
| AllianceGenome | HGNC:2001 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000652365.1 | hg38 | chr15 | 32,718,494 | 32,734,583 | 16,090 |
| ENST00000560830.1 | hg38 | chr15 | 32,718,004 | 32,733,302 | 15,299 |
| ENST00000560677.5 | hg38 | chr15 | 32,718,004 | 32,731,275 | 13,272 |
| ENST00000651154.1 | hg38 | chr15 | 32,718,004 | 32,745,106 | 27,103 |
| ENST00000560677.5 | hg19 | chr15 | 33,010,205 | 33,023,476 | 13,272 |
| ENST00000560830.1 | hg19 | chr15 | 33,010,205 | 33,025,503 | 15,299 |
| ENST00000651154.1 | hg19 | chr15 | 33,010,205 | 33,037,307 | 27,103 |
| ENST00000652365.1 | hg19 | chr15 | 33,010,695 | 33,026,784 | 16,090 |
Genome browser




