SNPH syntaphilin
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 40 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
40 |
 |
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
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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 | |||||||||||
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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 |
|---|---|
| MIM | 604942 OMIM |
| HGNC | HGNC:15931 HGNC |
| Ensembl | ENSG00000101298 Ensembl |
| AllianceGenome | HGNC:15931 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000649598.1 | hg38 | chr20 | 1,266,280 | 1,307,051 | 40,772 |
| ENST00000381867.6 | hg38 | chr20 | 1,266,294 | 1,309,327 | 43,034 |
| ENST00000381873.7 | hg38 | chr20 | 1,266,316 | 1,309,328 | 43,013 |
| ENST00000614659.1 | hg38 | chr20 | 1,295,774 | 1,309,325 | 13,552 |
| ENST00000649598.1 | hg19 | chr20 | 1,246,924 | 1,287,695 | 40,772 |
| ENST00000381867.6 | hg19 | chr20 | 1,246,938 | 1,289,971 | 43,034 |
| ENST00000381873.7 | hg19 | chr20 | 1,246,960 | 1,289,972 | 43,013 |
| ENST00000614659.1 | hg19 | chr20 | 1,276,418 | 1,289,969 | 13,552 |
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