SPX spexin hormone
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 4 |
Uncertain significance | 0 | 18 |
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
[No Data.]
Locus Zoom
Variants
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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 | C12orf39 |
SYNONYM | SPX1 |
MIM | 619246 OMIM |
HGNC | HGNC:28139 HGNC |
Ensembl | ENSG00000134548 Ensembl |
AllianceGenome | HGNC:28139 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000256969.7 | hg38 | chr12 | 21,526,296 | 21,532,947 | 6,652 |
ENST00000535033.5 | hg38 | chr12 | 21,527,044 | 21,532,523 | 5,480 |
ENST00000256969.7 | hg19 | chr12 | 21,679,230 | 21,685,881 | 6,652 |
ENST00000535033.5 | hg19 | chr12 | 21,679,978 | 21,685,457 | 5,480 |
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