chr19:4117529:A>C Detail (hg19) (MAP2K2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:4,117,529-4,117,529 |
| hg38 | chr19:4,117,531-4,117,531 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_030662.3:c.191T>G | NP_109587.1:p.Val64Gly |
| Ensemble | ENST00000262948.10:c.191T>G | ENST00000262948.10:p.Val64Gly |
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
|
2017-08-03 | no assertion criteria provided | cardiofaciocutaneous syndrome 4 |
de novo
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_030662.4(MAP2K2):c.191T>G (p.Val64Gly) AND Cardiofaciocutaneous syndrome 4 | ClinVar | 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
- rs1135401787 dbSNP
- Genome
- hg19
- Position
- chr19:4,117,529-4,117,529
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser