GOLGA3 golgin A3
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 8 |
| Likely benign | 0 | 34 |
| Uncertain significance | 0 | 206 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
248 |
 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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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| 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 | GCP170 |
| SYNONYM | MEA-2 |
| MIM | 602581 OMIM |
| HGNC | HGNC:4426 HGNC |
| Ensembl | ENSG00000090615 Ensembl |
| AllianceGenome | HGNC:4426 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000685120.1 | hg38 | chr12 | 132,812,975 | 132,828,841 | 15,867 |
| ENST00000691696.1 | hg38 | chr12 | 132,772,968 | 132,828,731 | 55,764 |
| ENST00000689813.1 | hg38 | chr12 | 132,813,085 | 132,828,864 | 15,780 |
| ENST00000456883.7 | hg38 | chr12 | 132,774,497 | 132,828,853 | 54,357 |
| ENST00000204726.9 | hg38 | chr12 | 132,768,902 | 132,828,869 | 59,968 |
| ENST00000692951.1 | hg38 | chr12 | 132,785,293 | 132,822,311 | 37,019 |
| ENST00000691636.1 | hg38 | chr12 | 132,772,972 | 132,828,820 | 55,849 |
| ENST00000688114.1 | hg38 | chr12 | 132,768,933 | 132,828,858 | 59,926 |
| ENST00000450791.8 | hg38 | chr12 | 132,768,914 | 132,828,869 | 59,956 |
| ENST00000687165.1 | hg38 | chr12 | 132,812,948 | 132,828,862 | 15,915 |
| ENST00000692384.1 | hg38 | chr12 | 132,812,954 | 132,828,833 | 15,880 |
| ENST00000685580.1 | hg38 | chr12 | 132,812,948 | 132,828,866 | 15,919 |
| ENST00000686751.1 | hg38 | chr12 | 132,812,945 | 132,829,143 | 16,199 |
| ENST00000545875.4 | hg38 | chr12 | 132,783,868 | 132,828,840 | 44,973 |
| ENST00000204726.9 | hg19 | chr12 | 133,345,488 | 133,405,455 | 59,968 |
| ENST00000450791.8 | hg19 | chr12 | 133,345,500 | 133,405,455 | 59,956 |
| ENST00000456883.7 | hg19 | chr12 | 133,351,083 | 133,405,439 | 54,357 |
| ENST00000545875.4 | hg19 | chr12 | 133,360,454 | 133,405,426 | 44,973 |
| ENST00000686751.1 | hg19 | chr12 | 133,389,531 | 133,405,729 | 16,199 |
| ENST00000687165.1 | hg19 | chr12 | 133,389,534 | 133,405,448 | 15,915 |
| ENST00000685580.1 | hg19 | chr12 | 133,389,534 | 133,405,452 | 15,919 |
| ENST00000685120.1 | hg19 | chr12 | 133,389,561 | 133,405,427 | 15,867 |
| ENST00000689813.1 | hg19 | chr12 | 133,389,671 | 133,405,450 | 15,780 |
| ENST00000688114.1 | hg19 | chr12 | 133,345,519 | 133,405,444 | 59,926 |
| ENST00000691696.1 | hg19 | chr12 | 133,349,554 | 133,405,317 | 55,764 |
| ENST00000691636.1 | hg19 | chr12 | 133,349,558 | 133,405,406 | 55,849 |
| ENST00000692384.1 | hg19 | chr12 | 133,389,540 | 133,405,419 | 15,880 |
| ENST00000692951.1 | hg19 | chr12 | 133,361,879 | 133,398,897 | 37,019 |
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