chr3:138946472:A>C Detail (hg38) (FOXL2)

Information

Genome

Assembly Position
hg19 chr3:138,665,314-138,665,314 View the variant detail on this assembly version.
hg38 chr3:138,946,472-138,946,472

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000648323.1:c.251T>G ENST00000648323.1:p.Ile84Ser
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 2003-02-01 no assertion criteria provided BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I germline Detail
Pathogenic 2023-11-15 criteria provided, single submitter FOXL2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Blepharophimosis syndrome type 1 NA CLINVAR Detail
0.448 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) The analysis of the FOXL2 gene (3q23) in a series of two families and two sporad... UNIPROT 12630957 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_023067.4(FOXL2):c.251T>G (p.Ile84Ser) AND BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE... ClinVar Detail
NM_023067.4(FOXL2):c.251T>G (p.Ile84Ser) AND FOXL2-related disorder ClinVar Detail
NA DisGeNET Detail
The analysis of the FOXL2 gene (3q23) in a series of two families and two sporadic cases affected wi... 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
rs28937884 dbSNP
Genome
hg38
Position
chr3:138,946,472-138,946,472
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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