chr2:47705504:A> Detail (hg19) (MSH2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:47,705,504-47,705,504 |
| hg38 | chr2:47,478,365-47,478,365 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000251.2:c.2304delA | NP_000242.1:p.Glu768AspfsTer44 |
| NM_001258281.1:c.2106delA | NP_001245210.1:p.Glu702AspfsTer44 | |
| Ensemble | ENST00000233146.7:c.2304delA | ENST00000233146.7:p.Glu768AspfsTer44 |
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
|
2014-07-24 | no assertion criteria provided | Lynch syndrome 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.320 | Colorectal cancer, hereditary nonpolyposis, type 1 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000251.3(MSH2):c.2304del (p.Glu768fs) AND Lynch syndrome 1 | 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
- rs587783053 dbSNP
- Genome
- hg19
- Position
- chr2:47,705,504-47,705,504
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- -
Genome browser