GALNT8 polypeptide N-acetylgalactosaminyltransferase 8
Information
- Symbol
- GALNT8
- Type
- protein-coding
- Description
- polypeptide N-acetylgalactosaminyltransferase 8
- Entrez Gene ID
- 26290
- Genome
- hg19
- Position
- chr12:4,829,566-4,881,892
- Genome
- hg38
- Position
- chr12:4,720,400-4,772,726
- MIM
- 606250 OMIM
- HGNC
- HGNC:4130 HGNC
- Ensembl
- ENSG00000130035 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 10 |
| Likely benign | 0 | 6 |
| Uncertain significance | 0 | 68 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
84 |
 |
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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| 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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| 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 | GALNAC-T8 |
| MIM | 606250 OMIM |
| HGNC | HGNC:4130 HGNC |
| Ensembl | ENSG00000130035 Ensembl |
| AllianceGenome | HGNC:4130 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000252318.7 | hg38 | chr12 | 4,720,400 | 4,772,726 | 52,327 |
| ENST00000252318.7 | hg19 | chr12 | 4,829,566 | 4,881,892 | 52,327 |
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