SLC27A3 solute carrier family 27 member 3
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 8 |
not provided | 0 | 18 |
Uncertain significance | 0 | 136 |
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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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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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 | ACSVL3 |
SYNONYM | FATP3 |
SYNONYM | VLCS-3 |
MIM | 604193 OMIM |
HGNC | HGNC:10997 HGNC |
Ensembl | ENSG00000143554 Ensembl |
AllianceGenome | HGNC:10997 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000271857.6 | hg38 | chr1 | 153,774,354 | 153,780,157 | 5,804 |
ENST00000624995.4 | hg38 | chr1 | 153,775,407 | 153,780,157 | 4,751 |
ENST00000271857.6 | hg19 | chr1 | 153,746,830 | 153,752,633 | 5,804 |
ENST00000624995.4 | hg19 | chr1 | 153,747,883 | 153,752,633 | 4,751 |
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