RGD:401927700 Rat Genome Database

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Variant: RGD:401927700 -  Homo sapiens

RGD ID: 401927700
ClinVar ID: CV2812791
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXE3  LINC01389  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 47,881,990
GRCh38 1 47,416,318
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.3G>A
NG_016192.1:g.5247G>A
NC_000001.11:g.47416318G>A
NC_000001.10:g.47881990G>A
More... 		03/01/2022 initiator_codon_variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:FOXE3
Accession:NM_012186
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
IAGRSDMDPPAAFSGFPALPAVAPSGPPPSPLAGAEPGREPEEAAAGRGEAAPTPAPGPGRRRRRPLQRGKPPYSYIALI
AMALAHAPGRRLTLAAIYRFITERFAFYRDSPRKWQNSIRHNLTLNDCFVKVPREPGNPGKGNYWTLDPAAADMFDNGSF
LRRRKRFKRAELPAHAAAAPGPPLPFPYAPYAPAPGPALLVPPPSAGPGPSPPARLFSVDSLVNLQPELAGLGAPEPPCC
AAPDAAAAAFPPCAAAASPPLYSQVPDRLVLPATRPGPGPLPAEPLLALAGPAAALGPLSPGEAYLRQPGFASGLERYL*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003406483 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FOXE3 CLINVAR
  LINC01389 CLINVAR
OMIM 601094 CLINVAR