chr3:138664743:G>C Detail (hg19) (FOXL2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:138,664,743-138,664,743 |
hg38 | chr3:138,945,901-138,945,901 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | ||
Ensemble | ENST00000648323.1:c.822C>G | ENST00000648323.1:p.Tyr274Ter |
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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2003-02-01 | no assertion criteria provided | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I |
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Detail |
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2003-02-01 | no assertion criteria provided | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II |
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Detail |
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2022-03-29 | criteria provided, single submitter | blepharophimosis, ptosis, and epicanthus inversus syndrome,Premature ovarian failure 3 |
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Detail |
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2022-03-29 | criteria provided, single submitter | blepharophimosis, ptosis, and epicanthus inversus syndrome,Premature ovarian failure 3 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.240 | Blepharophimosis syndrome type 1 | NA | CLINVAR | Detail | |
0.120 | Blepharophimosis syndrome type 2 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_023067.4(FOXL2):c.822C>G (p.Tyr274Ter) AND BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYP... | ClinVar | Detail |
NM_023067.4(FOXL2):c.822C>G (p.Tyr274Ter) AND BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYP... | ClinVar | Detail |
NM_023067.4(FOXL2):c.822C>G (p.Tyr274Ter) AND multiple conditions | ClinVar | Detail |
NM_023067.4(FOXL2):c.822C>G (p.Tyr274Ter) AND multiple conditions | 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 |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs104893738 dbSNP
- Genome
- hg19
- Position
- chr3:138,664,743-138,664,743
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser