SGSM2 small G protein signaling modulator 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 10 |
Uncertain significance | 0 | 140 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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148 |
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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 |
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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 | |||
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Entry | Origin | Type | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | RUTBC1 |
MIM | 611418 OMIM |
HGNC | HGNC:29026 HGNC |
Ensembl | ENSG00000141258 Ensembl |
AllianceGenome | HGNC:29026 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000426855.6 | hg38 | chr17 | 2,337,514 | 2,381,058 | 43,545 |
ENST00000268989.8 | hg38 | chr17 | 2,337,501 | 2,381,054 | 43,554 |
ENST00000574563.5 | hg38 | chr17 | 2,337,622 | 2,380,675 | 43,054 |
ENST00000268989.8 | hg19 | chr17 | 2,240,795 | 2,284,348 | 43,554 |
ENST00000426855.6 | hg19 | chr17 | 2,240,808 | 2,284,352 | 43,545 |
ENST00000574563.5 | hg19 | chr17 | 2,240,916 | 2,283,969 | 43,054 |
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