RGD:11634364 Rat Genome Database

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Variant: RGD:11634364 -  Homo sapiens

RGD ID: 11634364
RS ID: rs1057516160
ClinVar ID: CV354132
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXL2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 138,665,176
GRCh38 3 138,946,334
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012454.1:g.5807T>A
NC_000003.12:g.138946334A>T
NC_000003.11:g.138665176A>T
p.[Leu130Gln]
More... 		11/03/2016 missense variant uncertain significance neonatal 1-9 / 100 000 Blepharophimosis, ptosis, and epicanthus inversus
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FOXL2
Accession:NM_023067
Location:EXON
Amino Acid Prediction: L to Q (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMASYPEPEDAAGALLAPETGRTVKEPEGPPPSPGKGGGGGGGTAPEKPDPAQKPPYSYVALIAMAIRESAEKRLTLSGI
YQYIIAKFPFYEKNKKGWQNSIRHNLSLNECFIKVPREGGGERKGNYWTQDPACEDMFEKGNYRRRRRMKRPFRPPPAHF
QPGKGLFGAGGAAGGCGVAGAGADGYGYLAPPKYLQSGFLNNSWPLPQPPSPMPYASCQMAAAAAAAAAAAAAAGPGSPG
AAAVVKGLAGPAASYGPYTRVQSMALPPGVVNSYNGLGGPPAAPPPPPHPHPHPHAHHLHAAAAPPPAPPHHGAAAPPPG
QLSPASPATAAPPAPAPTSAPGLQFACARQPELAMMHCSYWDHDSKTGALHSRLDL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000408803 CLINVAR
dbSNP (RS) rs1057516160 CLINVAR
MedGen C0220663 CLINVAR
NCBI Gene FOXL2 CLINVAR
OMIM 110100 CLINVAR
  605597 CLINVAR