SPMIP9 sperm microtubule inner protein 9
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 6 |
not provided | 4 | 0 |
Uncertain significance | 0 | 16 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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22 |
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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 | |||||
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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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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 |
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SYNONYM | C2orf51 |
SYNONYM | TEX37 |
SYNONYM | TSC21 |
MIM | 619676 OMIM |
HGNC | HGNC:26341 HGNC |
Ensembl | ENSG00000172073 Ensembl |
AllianceGenome | HGNC:26341 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000303254.4 | hg38 | chr2 | 88,524,649 | 88,529,585 | 4,937 |
ENST00000303254.4 | hg19 | chr2 | 88,824,167 | 88,829,103 | 4,937 |
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