chr12:25245284:G>A Detail (hg38) (KRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:25,398,218-25,398,218 View the variant detail on this assembly version. |
| hg38 | chr12:25,245,284-25,245,284 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004985.4:c.101C>T | NP_004976.2:p.Pro34Leu |
| NM_033360.3:c.101C>T | NP_203524.1:p.Pro34Leu | |
| Ensemble | ENST00000256078.10:c.101C>T | ENST00000256078.10:p.Pro34Leu |
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 |
|---|---|---|---|---|---|
Pathogenic
|
2017-04-03 | reviewed by expert panel | Noonan syndrome |
germline
|
Detail |
|
Pathogenic
|
2012-03-21 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2016-03-09 | criteria provided, single submitter | RASopathy |
germline
|
Detail |
|
Pathogenic
|
2023-02-23 | criteria provided, single submitter | Noonan syndrome 3 |
unknown
|
Detail |
|
Pathogenic
|
no assertion criteria provided | Noonan syndrome 1 |
de novo
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | cardiofaciocutaneous syndrome 2 | NA | CLINVAR | Detail | |
| 0.440 | Noonan syndrome 3 | NA | CLINVAR | Detail | |
| 0.244 | Cardio-facio-cutaneous syndrome | We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V... | BeFree | 16474405 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004985.5(KRAS):c.101C>T (p.Pro34Leu) AND Noonan syndrome | ClinVar | Detail |
| NM_004985.5(KRAS):c.101C>T (p.Pro34Leu) AND not provided | ClinVar | Detail |
| NM_004985.5(KRAS):c.101C>T (p.Pro34Leu) AND RASopathy | ClinVar | Detail |
| NM_004985.5(KRAS):c.101C>T (p.Pro34Leu) AND Noonan syndrome 3 | ClinVar | Detail |
| NM_004985.5(KRAS):c.101C>T (p.Pro34Leu) AND Noonan syndrome 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitu... | 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
- rs104894366 dbSNP
- Genome
- hg38
- Position
- chr12:25,245,284-25,245,284
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser