MOSPD2 motile sperm domain containing 2
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Likely benign | 0 | 2 |
| not provided | 7 | 0 |
| Uncertain significance | 0 | 18 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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24 |
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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
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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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| 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 | 301086 OMIM |
| HGNC | HGNC:28381 HGNC |
| Ensembl | ENSG00000130150 Ensembl |
| AllianceGenome | HGNC:28381 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000482354.5 | hg38 | chrX | 14,873,455 | 14,921,756 | 48,302 |
| ENST00000380492.8 | hg38 | chrX | 14,873,421 | 14,922,327 | 48,907 |
| ENST00000497603.2 | hg38 | chrX | 14,873,529 | 14,874,454 | 926 |
| ENST00000380492.8 | hg19 | chrX | 14,891,543 | 14,940,449 | 48,907 |
| ENST00000482354.5 | hg19 | chrX | 14,891,577 | 14,939,878 | 48,302 |
| ENST00000497603.2 | hg19 | chrX | 14,891,651 | 14,892,576 | 926 |
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