SLC25A23 solute carrier family 25 member 23
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 4 |
not provided | 0 | 2 |
Uncertain significance | 0 | 76 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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86 |
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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
Search Word
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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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 | APC2 |
SYNONYM | MCSC2 |
SYNONYM | SCAMC3 |
SYNONYM | SCaMC-3 |
MIM | 608746 OMIM |
HGNC | HGNC:19375 HGNC |
Ensembl | ENSG00000125648 Ensembl |
AllianceGenome | HGNC:19375 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000334510.9 | hg38 | chr19 | 6,443,562 | 6,459,735 | 16,174 |
ENST00000301454.9 | hg38 | chr19 | 6,440,064 | 6,459,792 | 19,729 |
ENST00000301454.9 | hg19 | chr19 | 6,440,075 | 6,459,803 | 19,729 |
ENST00000334510.9 | hg19 | chr19 | 6,443,573 | 6,459,746 | 16,174 |
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