RGD:405057567 Rat Genome Database

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Variant: RGD:405057567 -  Homo sapiens

RGD ID: 405057567
ClinVar ID: CV3102413
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXE3  LINC01389  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 47,882,083
GRCh38 1 47,416,411
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_012186.3:c.96C>T
NG_016192.1:g.5340C>T
NC_000001.11:g.47416411C>T
NC_000001.10:g.47882083C>T
More... 		06/10/2023 synonymous variant likely benign 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: L to L (synonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGRSDMDPPAAFSGFPALPAVAPSGPPPSPLAGAEPGREPEEAAAGRGEAAPTPAPGPGRRRRRPLQRGKPPYSYIALI
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 RCV003798555 CLINVAR
MedGen C1853230 CLINVAR
NCBI Gene FOXE3 CLINVAR
  LINC01389 CLINVAR
OMIM 601094 CLINVAR
  610256 CLINVAR