chr2:29432739:A>G Detail (hg19) (ALK)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:29,432,739-29,432,739 |
| hg38 | chr2:29,209,873-29,209,873 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004304.4:c.3749T>C | NP_004295.2:p.Ile1250Thr |
| Ensemble | ENST00000389048.8:c.3749T>C | ENST00000389048.8:p.Ile1250Thr |
| ENST00000618119.4:c.2618T>C | ENST00000618119.4:p.Ile873Thr |
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
|
2023-07-06 | criteria provided, single submitter | Neuroblastoma, susceptibility to, 3 |
germline
|
Detail |
Likely pathogenic
|
2016-05-13 | no assertion criteria provided | neuroblastoma |
somatic
|
Detail |
|
Uncertain significance
|
2023-09-21 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
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.3749T>C (p.Ile1250Thr) AND Neuroblastoma, susceptibility to, 3 | ClinVar | Detail |
| NM_004304.5(ALK):c.3749T>C (p.Ile1250Thr) AND Neuroblastoma | ClinVar | Detail |
| NM_004304.5(ALK):c.3749T>C (p.Ile1250Thr) AND Hereditary cancer-predisposing syndrome | 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
- rs113994092 dbSNP
- Genome
- hg19
- Position
- chr2:29,432,739-29,432,739
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser