SLC8A3 solute carrier family 8 member A3
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 12 |
| Likely benign | 0 | 10 |
| Uncertain significance | 0 | 112 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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132 |
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2 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | NCX3 |
| MIM | 607991 OMIM |
| HGNC | HGNC:11070 HGNC |
| Ensembl | ENSG00000100678 Ensembl |
| AllianceGenome | HGNC:11070 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000381269.6 | hg38 | chr14 | 70,044,217 | 70,189,070 | 144,854 |
| ENST00000394330.6 | hg38 | chr14 | 70,044,419 | 70,080,180 | 35,762 |
| ENST00000528359.6 | hg38 | chr14 | 70,045,947 | 70,189,070 | 143,124 |
| ENST00000533541.1 | hg38 | chr14 | 70,046,075 | 70,080,180 | 34,106 |
| ENST00000534137.5 | hg38 | chr14 | 70,045,947 | 70,168,484 | 122,538 |
| ENST00000216568.11 | hg38 | chr14 | 70,044,255 | 70,080,206 | 35,952 |
| ENST00000705391.1 | hg38 | chr14 | 70,044,402 | 70,189,480 | 145,079 |
| ENST00000356921.7 | hg38 | chr14 | 70,044,215 | 70,188,951 | 144,737 |
| ENST00000356921.7 | hg19 | chr14 | 70,510,932 | 70,655,668 | 144,737 |
| ENST00000381269.6 | hg19 | chr14 | 70,510,934 | 70,655,787 | 144,854 |
| ENST00000216568.11 | hg19 | chr14 | 70,510,972 | 70,546,923 | 35,952 |
| ENST00000705391.1 | hg19 | chr14 | 70,511,119 | 70,656,197 | 145,079 |
| ENST00000394330.6 | hg19 | chr14 | 70,511,136 | 70,546,897 | 35,762 |
| ENST00000534137.5 | hg19 | chr14 | 70,512,664 | 70,635,201 | 122,538 |
| ENST00000528359.6 | hg19 | chr14 | 70,512,664 | 70,655,787 | 143,124 |
| ENST00000533541.1 | hg19 | chr14 | 70,512,792 | 70,546,897 | 34,106 |
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