chr3:12650394:A>G Detail (hg19) (RAF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:12,650,394-12,650,394 |
hg38 | chr3:12,608,895-12,608,895 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_002880.3:c.452T>C | NP_002871.1:p.Phe151Ser |
Ensemble | ENST00000251849.9:c.452T>C | ENST00000251849.9:p.Phe151Ser |
ENST00000442415.7:c.452T>C | ENST00000442415.7:p.Phe151Ser |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.384 | Noonan syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_002880.4(RAF1):c.452T>C (p.Phe151Ser) AND Noonan syndrome | ClinVar | Detail |
NM_002880.4(RAF1):c.452T>C (p.Phe151Ser) AND RASopathy | 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
- rs587782971 dbSNP
- Genome
- hg19
- Position
- chr3:12,650,394-12,650,394
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser