SRP14 signal recognition particle 14
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 2 |
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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14 |
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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
[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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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 | ALURBP |
MIM | 600708 OMIM |
HGNC | HGNC:11299 HGNC |
Ensembl | ENSG00000140319 Ensembl |
AllianceGenome | HGNC:11299 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000267884.11 | hg38 | chr15 | 40,035,690 | 40,039,181 | 3,492 |
ENST00000559081.1 | hg38 | chr15 | 40,036,688 | 40,039,153 | 2,466 |
ENST00000560773.5 | hg38 | chr15 | 40,036,243 | 40,039,156 | 2,914 |
ENST00000558720.5 | hg38 | chr15 | 40,036,042 | 40,039,050 | 3,009 |
ENST00000267884.11 | hg19 | chr15 | 40,327,891 | 40,331,382 | 3,492 |
ENST00000558720.5 | hg19 | chr15 | 40,328,243 | 40,331,251 | 3,009 |
ENST00000560773.5 | hg19 | chr15 | 40,328,444 | 40,331,357 | 2,914 |
ENST00000559081.1 | hg19 | chr15 | 40,328,889 | 40,331,354 | 2,466 |
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