SNX12 sorting nexin 12
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| not provided | 6 | 0 |
| Uncertain significance | 0 | 8 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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8 |
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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
|
| Category | : |
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| 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 | : |
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| 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 |
|---|---|
| MIM | 300883 OMIM |
| HGNC | HGNC:14976 HGNC |
| Ensembl | ENSG00000147164 Ensembl |
| AllianceGenome | HGNC:14976 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000622277.4 | hg38 | chrX | 71,059,249 | 71,073,426 | 14,178 |
| ENST00000622259.4 | hg38 | chrX | 71,056,332 | 71,068,448 | 12,117 |
| ENST00000276105.3 | hg38 | chrX | 71,060,870 | 71,068,403 | 7,534 |
| ENST00000374274.8 | hg38 | chrX | 71,059,247 | 71,068,334 | 9,088 |
| ENST00000622259.4 | hg19 | chrX | 70,276,182 | 70,288,298 | 12,117 |
| ENST00000374274.8 | hg19 | chrX | 70,279,097 | 70,288,184 | 9,088 |
| ENST00000622277.4 | hg19 | chrX | 70,279,099 | 70,293,276 | 14,178 |
| ENST00000276105.3 | hg19 | chrX | 70,280,720 | 70,288,253 | 7,534 |
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