SHD Src homology 2 domain containing transforming protein D
Information
- Symbol
- SHD
- Type
- protein-coding
- Description
- Src homology 2 domain containing transforming protein D
- Entrez Gene ID
- 56961
- Genome
- hg19
- Position
- chr19:4,279,263-4,290,719
- Genome
- hg38
- Position
- chr19:4,279,266-4,290,722
- MIM
- 610481 OMIM
- HGNC
- HGNC:30633 HGNC
- Ensembl
- ENSG00000105251 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 62 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
64 |
 |
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
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| 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
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| 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
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| Category | : |
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| 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 |
|---|---|
| MIM | 610481 OMIM |
| HGNC | HGNC:30633 HGNC |
| Ensembl | ENSG00000105251 Ensembl |
| AllianceGenome | HGNC:30633 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000543264.7 | hg38 | chr19 | 4,279,266 | 4,290,722 | 11,457 |
| ENST00000599689.1 | hg38 | chr19 | 4,279,296 | 4,290,691 | 11,396 |
| ENST00000543264.7 | hg19 | chr19 | 4,279,263 | 4,290,719 | 11,457 |
| ENST00000599689.1 | hg19 | chr19 | 4,279,293 | 4,290,688 | 11,396 |
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