chr3:138664915:G>A Detail (hg19) (FOXL2)

Information

Genome

Assembly Position
hg19 chr3:138,664,915-138,664,915
hg38 chr3:138,946,073-138,946,073 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000648323.1:c.650C>T ENST00000648323.1:p.Ser217Phe
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
Likely pathogenic 2018-01-01 no assertion criteria provided blepharophimosis, ptosis, and epicanthus inversus syndrome germline maternal Detail
Pathogenic 2023-02-10 criteria provided, multiple submitters, no conflicts not provided germline 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

DescrptionSourceLinks
NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe) AND Blepharophimosis, ptosis, and epicanthus inversus synd... ClinVar Detail
NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe) AND not provided 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
rs797044527 dbSNP
Genome
hg19
Position
chr3:138,664,915-138,664,915
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser