SSH1 slingshot protein phosphatase 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 8 |
Likely benign | 0 | 26 |
Uncertain significance | 0 | 108 |
Ranking
ClinVar | |
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0 |
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0 |
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2 |
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138 |
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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
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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 | |||||
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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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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 | SSH1L |
MIM | 606778 OMIM |
HGNC | HGNC:30579 HGNC |
Ensembl | ENSG00000084112 Ensembl |
AllianceGenome | HGNC:30579 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000326495.10 | hg38 | chr12 | 108,778,191 | 108,857,583 | 79,393 |
ENST00000326470.9 | hg38 | chr12 | 108,791,926 | 108,827,551 | 35,626 |
ENST00000551165.5 | hg38 | chr12 | 108,791,919 | 108,857,590 | 65,672 |
ENST00000326495.10 | hg19 | chr12 | 109,171,967 | 109,251,359 | 79,393 |
ENST00000551165.5 | hg19 | chr12 | 109,185,695 | 109,251,366 | 65,672 |
ENST00000326470.9 | hg19 | chr12 | 109,185,702 | 109,221,327 | 35,626 |
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