SUSD2 sushi domain containing 2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 12 |
| Likely benign | 0 | 28 |
| not provided | 5 | 0 |
| Uncertain significance | 0 | 138 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
4 |
 |
170 |
 |
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
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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 | |||||||||||
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MGeND data only
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| 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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| 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 | BK65A6.2 |
| SYNONYM | W5C5 |
| MIM | 615825 OMIM |
| HGNC | HGNC:30667 HGNC |
| Ensembl | ENSG00000099994 Ensembl |
| AllianceGenome | HGNC:30667 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000358321.4 | hg38 | chr22 | 24,181,487 | 24,189,106 | 7,620 |
| ENST00000358321.4 | hg19 | chr22 | 24,577,455 | 24,585,074 | 7,620 |
| Key | Value |
|---|---|
| strand | + |
| UniProt | TSG |
| start | 24,577,443 |
| Gene Symbol | SUSD2 |
| Entrez GeneId | 56,241 |
| Chr Band | 22q11-q12 |
| end | 24,585,073 |
| chr | chr22 |
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