chr1:114713941:G>A Detail (hg38) (NRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:115,256,562-115,256,562 View the variant detail on this assembly version. |
| hg38 | chr1:114,713,941-114,713,941 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002524.4:c.149C>T | NP_002515.1:p.Thr50Ile |
| Ensemble | ENST00000369535.5:c.149C>T | ENST00000369535.5:p.Thr50Ile |
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
|
2010-01-01 | no assertion criteria provided | Noonan syndrome 6 |
germline
|
Detail |
not provided
|
no assertion provided | Noonan syndrome 1 |
germline
|
Detail | |
|
Pathogenic
|
2013-03-06 | criteria provided, single submitter | Noonan syndrome |
germline
|
Detail |
|
Pathogenic
|
2022-07-11 | criteria provided, multiple submitters, no conflicts | RASopathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | Noonan syndrome 6 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) AND Noonan syndrome 6 | ClinVar | Detail |
| NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) AND Noonan syndrome 1 | ClinVar | Detail |
| NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) AND Noonan syndrome | ClinVar | Detail |
| NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) 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
- rs267606921 dbSNP
- Genome
- hg38
- Position
- chr1:114,713,941-114,713,941
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser