SAA1 serum amyloid A1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 10 |
Likely benign | 0 | 12 |
Uncertain significance | 0 | 20 |
Ranking
ClinVar | |
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0 |
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0 |
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2 |
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38 |
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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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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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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 | PIG4 |
SYNONYM | SAA |
SYNONYM | SAA2 |
SYNONYM | TP53I4 |
MIM | 104750 OMIM |
HGNC | HGNC:10513 HGNC |
Ensembl | ENSG00000173432 Ensembl |
AllianceGenome | HGNC:10513 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000532858.5 | hg38 | chr11 | 18,266,260 | 18,269,967 | 3,708 |
ENST00000405158.2 | hg38 | chr11 | 18,266,264 | 18,269,977 | 3,714 |
ENST00000649195.1 | hg38 | chr11 | 18,266,261 | 18,269,962 | 3,702 |
ENST00000356524.9 | hg38 | chr11 | 18,266,264 | 18,269,967 | 3,704 |
ENST00000689650.1 | hg38 | chr11 | 18,266,261 | 18,269,967 | 3,707 |
ENST00000532858.5 | hg19 | chr11 | 18,287,807 | 18,291,514 | 3,708 |
ENST00000649195.1 | hg19 | chr11 | 18,287,808 | 18,291,509 | 3,702 |
ENST00000689650.1 | hg19 | chr11 | 18,287,808 | 18,291,514 | 3,707 |
ENST00000356524.9 | hg19 | chr11 | 18,287,811 | 18,291,514 | 3,704 |
ENST00000405158.2 | hg19 | chr11 | 18,287,811 | 18,291,524 | 3,714 |
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