RGD:8596605 Rat Genome Database

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Variant: RGD:8596605 -  Homo sapiens

RGD ID: 8596605
RS ID: rs28937885
ClinVar ID: CV19908
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXL2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 138,664,793
GRCh38 3 138,945,951
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012454.1:g.6190T>A
NC_000003.12:g.138945951A>T
NC_000003.11:g.138664793A>T
NP_075555.1:p.Tyr258Asn
More... 		05/28/2019 2kb upstream variant|missense variant|neargene-5 pathogenic|uncertain significance 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: Y to N (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMASYPEPEDAAGALLAPETGRTVKEPEGPPPSPGKGGGGGGGTAPEKPDPAQKPPYSYVALIAMAIRESAEKRLTLSGI
YQYIIAKFPFYEKNKKGWQNSIRHNLSLNECFIKVPREGGGERKGNYWTLDPACEDMFEKGNYRRRRRMKRPFRPPPAHF
QPGKGLFGAGGAAGGCGVAGAGADGYGYLAPPKYLQSGFLNNSWPLPQPPSPMPYASCQMAAAAAAAAAAAAAAGPGSPG
AAAVVKGLAGPAASYGPNTRVQSMALPPGVVNSYNGLGGPPAAPPPPPHPHPHPHAHHLHAAAAPPPAPPHHGAAAPPPG
QLSPASPATAAPPAPAPTSAPGLQFACARQPELAMMHCSYWDHDSKTGALHSRLDL*
Variant Samples
Additional References at PubMed
PMID:12149404  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000005145 CLINVAR
  RCV000987342 CLINVAR
dbSNP (RS) rs28937885 CLINVAR
MedGen C0220663 CLINVAR
  C1837008 CLINVAR
NCBI Gene FOXL2 CLINVAR
OMIM 110100 CLINVAR
  605597 CLINVAR
  608996 CLINVAR
OMIM Allele 605597.0017 CLINVAR