chr2:29445450:C>G Detail (hg19) (ALK)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:29,445,450-29,445,450 |
| hg38 | chr2:29,222,584-29,222,584 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004304.4:c.3383G>C | NP_004295.2:p.Gly1128Ala |
| Ensemble | ENST00000389048.8:c.3383G>C | ENST00000389048.8:p.Gly1128Ala |
| ENST00000618119.4:c.2252G>C | ENST00000618119.4:p.Gly751Ala |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic; risk factor
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
| Pathogenic; risk factor | 2015-10-07 | no assertion criteria provided | Neuroblastoma, susceptibility to, 3 |
germline
inherited
|
Detail |
Likely pathogenic
|
2014-12-26 | no assertion criteria provided | Neoplasm of brain |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-13 | no assertion criteria provided | neuroblastoma |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | Neuroblastoma, susceptibility to, 3 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) AND Neuroblastoma, susceptibility to, 3 | ClinVar | Detail |
| NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) AND Neoplasm of brain | ClinVar | Detail |
| NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) AND Neuroblastoma | 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
- rs113994088 dbSNP
- Genome
- hg19
- Position
- chr2:29,445,450-29,445,450
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser