chr3:138665511:TG> Detail (hg19) (FOXL2)

Information

Genome

Assembly Position
hg19 chr3:138,665,511-138,665,512
hg38 chr3:138,946,669-138,946,670 

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000648323.1:c.53_54delCA ENST00000648323.1:p.Pro18ArgfsTer77
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 605597 OMIM
HGNC 1092 HGNC
Ensembl ENSG00000183770 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2001-07-15 no assertion criteria provided BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Blepharophimosis syndrome type 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_023067.4(FOXL2):c.53_54del (p.Pro18fs) AND BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYP... 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
rs863225450 dbSNP
Genome
hg19
Position
chr3:138,665,511-138,665,512
Variant Type
snv
Reference Allele
TG
Alternative Allele
-
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