chr3:138946518:C>T Detail (hg38) (FOXL2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:138,665,360-138,665,360 View the variant detail on this assembly version. |
| hg38 | chr3:138,946,518-138,946,518 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000648323.1:c.205G>A | ENST00000648323.1:p.Glu69Lys |
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
|
2011-06-01 | no assertion criteria provided | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | Blepharophimosis syndrome type 1 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_023067.4(FOXL2):c.205G>A (p.Glu69Lys) AND BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE... | 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
- rs387906920 dbSNP
- Genome
- hg38
- Position
- chr3:138,946,518-138,946,518
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser