chr3:138665005:C>T Detail (hg19) (FOXL2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:138,665,005-138,665,005 |
| hg38 | chr3:138,946,163-138,946,163 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000648323.1:c.560G>A | ENST00000648323.1:p.Gly187Asp |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Likely pathogenic
|
2019-07-10 | criteria provided, single submitter | Premature ovarian failure 3 |
germline
unknown
|
Detail |
Likely benign
|
2024-03-29 | criteria provided, single submitter | blepharophimosis, ptosis, and epicanthus inversus syndrome |
germline
|
Detail |
Uncertain significance
|
2020-04-17 | criteria provided, single submitter |
germline
|
Detail | |
|
Uncertain significance
|
2023-12-07 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | PREMATURE OVARIAN FAILURE 3 (disorder) | NA | CLINVAR | Detail | |
| 0.448 | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp) AND Premature ovarian failure 3 | ClinVar | Detail |
| NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp) AND Blepharophimosis, ptosis, and epicanthus inversus synd... | ClinVar | Detail |
| NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp) AND See cases | ClinVar | Detail |
| NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp) 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
- rs121908359 dbSNP
- Genome
- hg19
- Position
- chr3:138,665,005-138,665,005
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser