chr3:138946137:G>A Detail (hg38) (FOXL2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:138,664,979-138,664,979 View the variant detail on this assembly version. |
| hg38 | chr3:138,946,137-138,946,137 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000648323.1:c.586C>T | ENST00000648323.1:p.Gln196Ter |
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
|
2023-11-10 | criteria provided, multiple submitters, no conflicts | blepharophimosis, ptosis, and epicanthus inversus syndrome |
de novo
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.448 | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_023067.4(FOXL2):c.586C>T (p.Gln196Ter) AND Blepharophimosis, ptosis, and epicanthus inversus synd... | 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
- rs104893739 dbSNP
- Genome
- hg38
- Position
- chr3:138,946,137-138,946,137
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser