SRP68 signal recognition particle 68
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Uncertain significance | 0 | 44 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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44 |
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2 |
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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | SCN10 |
MIM | 604858 OMIM |
HGNC | HGNC:11302 HGNC |
Ensembl | ENSG00000167881 Ensembl |
AllianceGenome | HGNC:11302 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000602720.5 | hg38 | chr17 | 76,038,775 | 76,053,648 | 14,874 |
ENST00000307877.7 | hg38 | chr17 | 76,038,785 | 76,072,517 | 33,733 |
ENST00000629930.1 | hg38 | chr17 | 76,067,313 | 76,072,491 | 5,179 |
ENST00000539137.5 | hg38 | chr17 | 76,039,106 | 76,072,507 | 33,402 |
ENST00000602720.5 | hg19 | chr17 | 74,034,856 | 74,049,729 | 14,874 |
ENST00000307877.7 | hg19 | chr17 | 74,034,866 | 74,068,598 | 33,733 |
ENST00000539137.5 | hg19 | chr17 | 74,035,187 | 74,068,588 | 33,402 |
ENST00000629930.1 | hg19 | chr17 | 74,063,394 | 74,068,572 | 5,179 |
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