chr12:25362841:A>C Detail (hg19) (KRAS)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:25,362,841-25,362,841 |
hg38 | chr12:25,209,907-25,209,907 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004985.4:c.455T>G | NP_004976.2:p.Val152Gly |
NM_033360.3:c.455T>G | NP_203524.1:p.Val152Gly | |
Ensemble | ENST00000256078.10:c.*9T>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2006-07-01 | no assertion criteria provided | Noonan syndrome 3 |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.440 | Noonan syndrome 3 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_033360.4(KRAS):c.*9T>G AND Noonan syndrome 3 | 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
- rs104894367 dbSNP
- Genome
- hg19
- Position
- chr12:25,362,841-25,362,841
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser