chr17:80110055:G>A Detail (hg38) (GAA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:78,083,854-78,083,854 View the variant detail on this assembly version. |
| hg38 | chr17:80,110,055-80,110,055 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000152.4:c.1437G>A | NP_000143.2:p.Lys479= |
| NM_001079803.2:c.1437G>A | NP_001073271.1:p.Lys479= | |
| NM_001079804.2:c.1437G>A | NP_001073272.1:p.Lys479= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2020-01-22 | criteria provided, single submitter | Glycogen storage disease, type II |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.499 | Glycogen storage disease type II | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000152.5(GAA):c.1437G>A (p.Lys479=) AND Glycogen storage disease, type II | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs796051877 dbSNP
- Genome
- hg38
- Position
- chr17:80,110,055-80,110,055
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser