chr2:29443642:C>G Detail (hg19) (ALK)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:29,443,642-29,443,642 |
| hg38 | chr2:29,220,776-29,220,776 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004304.4:c.3575G>C | NP_004295.2:p.Arg1192Pro |
| Ensemble | ENST00000389048.8:c.3575G>C | ENST00000389048.8:p.Arg1192Pro |
| ENST00000618119.4:c.2444G>C | ENST00000618119.4:p.Arg815Pro |
Summary
MGeND
| Clinical significance |
Likely pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Likely pathogenic
|
neuroblastoma |
germline
|
MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2021-09-29 | criteria provided, single submitter | 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.3575G>C (p.Arg1192Pro) AND Neuroblastoma, susceptibility to, 3 | ClinVar | Detail |
| NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro) AND Neoplasm of brain | ClinVar | Detail |
| NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro) 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
- rs113994089 dbSNP
- Genome
- hg19
- Position
- chr2:29,443,642-29,443,642
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- R1192P
- Transcript 1 (CIViC Variant)
- ENST00000389048.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1661
Genome browser