RGD:11634340 Rat Genome Database

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Variant: RGD:11634340 -  Homo sapiens

RGD ID: 11634340
RS ID: rs1057516169
ClinVar ID: CV354120
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXL2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 138,664,909
GRCh38 3 138,946,067
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
NM_023067.4:c.656A>T
NG_029796.1:g.3834T>A
NG_012454.1:g.6074A>T
NC_000003.12:g.138946067T>A
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: Q to L (nonsynonymous)
Amino Acid Position: 219
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMASYPEPEDAAGALLAPETGRTVKEPEGPPPSPGKGGGGGGGTAPEKPDPAQKPPYSYVALIAMAIRESAEKRLTLSGI
YQYIIAKFPFYEKNKKGWQNSIRHNLSLNECFIKVPREGGGERKGNYWTLDPACEDMFEKGNYRRRRRMKRPFRPPPAHF
QPGKGLFGAGGAAGGCGVAGAGADGYGYLAPPKYLQSGFLNNSWPLPQPPSPMPYASCLMAAAAAAAAAAAAAAGPGSPG
AAAVVKGLAGPAASYGPYTRVQSMALPPGVVNSYNGLGGPPAAPPPPPHPHPHPHAHHLHAAAAPPPAPPHHGAAAPPPG
QLSPASPATAAPPAPAPTSAPGLQFACARQPELAMMHCSYWDHDSKTGALHSRLDL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000408776 CLINVAR
dbSNP (RS) rs1057516169 CLINVAR
MedGen C0220663 CLINVAR
NCBI Gene FOXL2 CLINVAR
OMIM 110100 CLINVAR
  605597 CLINVAR