chr3:12611985:G>C Detail (hg38) (RAF1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:12,653,484-12,653,484 View the variant detail on this assembly version. |
| hg38 | chr3:12,611,985-12,611,985 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002880.3:c.285C>G | NP_002871.1:p.Cys95Trp |
| Ensemble | ENST00000251849.9:c.285C>G | ENST00000251849.9:p.Cys95Trp |
| ENST00000442415.7:c.285C>G | ENST00000442415.7:p.Cys95Trp |
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
|
2014-08-11 | criteria provided, single submitter | Noonan syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.440 | Noonan syndrome 5 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002880.4(RAF1):c.285C>G (p.Cys95Trp) AND Noonan 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
- rs727503384 dbSNP
- Genome
- hg38
- Position
- chr3:12,611,985-12,611,985
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser