SLC27A1 solute carrier family 27 member 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 12 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 60 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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76 |
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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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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 |
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 | ACSVL5 |
SYNONYM | FATP |
SYNONYM | FATP-1 |
SYNONYM | FATP1 |
MIM | 600691 OMIM |
HGNC | HGNC:10995 HGNC |
Ensembl | ENSG00000130304 Ensembl |
AllianceGenome | HGNC:10995 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000598424.5 | hg38 | chr19 | 17,470,489 | 17,504,986 | 34,498 |
ENST00000252595.12 | hg38 | chr19 | 17,470,524 | 17,506,168 | 35,645 |
ENST00000598424.5 | hg19 | chr19 | 17,581,298 | 17,615,795 | 34,498 |
ENST00000252595.12 | hg19 | chr19 | 17,581,333 | 17,616,977 | 35,645 |
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