chr3:138946068:G>A Detail (hg38) (FOXL2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:138,664,910-138,664,910 View the variant detail on this assembly version. |
| hg38 | chr3:138,946,068-138,946,068 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000648323.1:c.655C>T | ENST00000648323.1:p.Gln219Ter |
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
|
2001-02-01 | no assertion criteria provided | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I |
germline
|
Detail |
|
Pathogenic
|
2016-11-03 | criteria provided, single submitter | blepharophimosis, ptosis, and epicanthus inversus syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-03-24 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | Blepharophimosis syndrome type 1 | NA | CLINVAR | Detail | |
| 0.448 | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_023067.4(FOXL2):c.655C>T (p.Gln219Ter) AND BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYP... | ClinVar | Detail |
| NM_023067.4(FOXL2):c.655C>T (p.Gln219Ter) AND Blepharophimosis, ptosis, and epicanthus inversus synd... | ClinVar | Detail |
| NM_023067.4(FOXL2):c.655C>T (p.Gln219Ter) AND not provided | ClinVar | Detail |
| NA | DisGeNET | 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
- rs104893741 dbSNP
- Genome
- hg38
- Position
- chr3:138,946,068-138,946,068
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser