RGD:126731942 Rat Genome Database

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Variant: RGD:126731942 -  Homo sapiens

RGD ID: 126731942
RS ID: rs1646883301
ClinVar ID: CV987664
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXE3  LINC01389  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 47,882,165
GRCh38 1 47,416,493
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.47416493G>T
NC_000001.10:g.47882165G>T
NP_036318.1:p.Gly60Trp
NM_012186.3:c.178G>T
More... 		10/13/2020 missense variant uncertain significance Anterior segment dysgenesis; ANTERIOR SEGMENT DYSGENESIS 2; Anterior segment dysgenesis 2, multiple subtypes; Ocular anterior segment dysgenesis
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:FOXE3
Accession:NM_012186
Location:EXON
Amino Acid Prediction: G to W (nonsynonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGRSDMDPPAAFSGFPALPAVAPSGPPPSPLAGAEPGREPEEAAAGRGEAAPTPAPGPWRRRRRPLQRGKPPYSYIALI
AMALAHAPGRRLTLAAIYRFITERFAFYRDSPRKWQNSIRHNLTLNDCFVKVPREPGNPGKGNYWTLDPAAADMFDNGSF
LRRRKRFKRAELPAHAAAAPGPPLPFPYAPYAPAPGPALLVPPPSAGPGPSPPARLFSVDSLVNLQPELAGLGAPEPPCC
AAPDAAAAAFPPCAAAASPPLYSQVPDRLVLPATRPGPGPLPAEPLLALAGPAAALGPLSPGEAYLRQPGFASGLERYL*

Gene Symbol:LINC01389
Accession:NR_126355
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001294475 CLINVAR
  RCV002411935 CLINVAR
dbSNP (RS) rs1646883301 CLINVAR
MedGen C1853230 CLINVAR
  CN230736 CLINVAR
NCBI Gene FOXE3 CLINVAR
  LINC01389 CLINVAR
OMIM 601094 CLINVAR
  610256 CLINVAR