chr3:138664793:A>T Detail (hg19) (FOXL2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:138,664,793-138,664,793 |
| hg38 | chr3:138,945,951-138,945,951 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000648323.1:c.772T>A | ENST00000648323.1:p.Tyr258Asn |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2002-08-01 | no assertion criteria provided | Premature ovarian failure 3 |
germline
|
Detail |
|
Uncertain significance
|
2019-05-28 | criteria provided, single submitter | blepharophimosis, ptosis, and epicanthus inversus syndrome |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | PREMATURE OVARIAN FAILURE 3 (disorder) | NA | CLINVAR | Detail | |
| 0.360 | PREMATURE OVARIAN FAILURE 3 (disorder) | Identification of novel mutations in FOXL2 associated with premature ovarian fai... | UNIPROT | 12149404 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_023067.4(FOXL2):c.772T>A (p.Tyr258Asn) AND Premature ovarian failure 3 | ClinVar | Detail |
| NM_023067.4(FOXL2):c.772T>A (p.Tyr258Asn) AND Blepharophimosis, ptosis, and epicanthus inversus synd... | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Identification of novel mutations in FOXL2 associated with premature ovarian failure. | 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
- rs28937885 dbSNP
- Genome
- hg19
- Position
- chr3:138,664,793-138,664,793
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 2708
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 25476
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 3.925262992620505E-5
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