chr16:56374878:A>G Detail (hg19) (GNAO1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:56,374,878-56,374,878 |
| hg38 | chr16:56,340,966-56,340,966 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020988.2:c.723+4106A>G | |
| NM_138736.2:c.856A>G | NP_620073.2:p.Ile286Val | |
| Ensemble | ENST00000640469.2:c.723+4106A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2019-10-02 | criteria provided, single submitter | Developmental and epileptic encephalopathy, 17 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_020988.3(GNAO1):c.723+4106A>G AND Developmental and epileptic encephalopathy, 17 | ClinVar | 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
- rs1437835350 dbSNP
- Genome
- hg19
- Position
- chr16:56,374,878-56,374,878
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser