chr3:138946550:GAGTACGGGGGCTTCTGCGCCGGGTCCGGCTT>AGCGC Detail (hg38) (FOXL2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:138,665,392-138,665,423 View the variant detail on this assembly version. |
hg38 | chr3:138,946,550-138,946,581 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | ||
Ensemble | ENST00000648323.1:c.142_173delinsGCGCT | ENST00000648323.1:p.Lys48_Ser58delinsAlaLeu |
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 |
---|---|---|---|---|---|
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2009-03-17 | no assertion criteria provided | blepharophimosis, ptosis, and epicanthus inversus syndrome |
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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.142_173delinsGCGCT (p.Lys48_Ser58delinsAlaLeu) AND Blepharophimosis, ptosis, an... | 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
- rs672601357 dbSNP
- Genome
- hg38
- Position
- chr3:138,946,550-138,946,581
- Variant Type
- snv
- Reference Allele
- GAGTACGGGGGCTTCTGCGCCGGGTCCGGCTT
- Alternative Allele
- AGCGC
Genome browser