RGD:155701558 Rat Genome Database

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Variant: RGD:155701558 -  Homo sapiens

RGD ID: 155701558
ClinVar ID: CV1818406
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TARDBP  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 11,082,433
GRCh38 1 11,022,376
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_659t1:c.967A>G
NM_007375.4:c.967A>G
LRG_659:g.14755A>G
NG_008734.1:g.14755A>G
More... 		07/15/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TARDBP
Accession:NM_007375
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 323
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSEYIRVTEDENDEPIEIPSEDDGTVLLSTVTAQFPGACGLRYRNPVSQCMRGVRLVEGILHAPDAGWGNLVYVVNYPKD
NKRKMDETDASSAVKVKRAVQKTSDLIVLGLPWKTTEQDLKEYFSTFGEVLMVQVKKDLKTGHSKGFGFVRFTEYETQVK
VMSQRHMIDGRWCDCKLPNSKQSQDEPLRSRKVFVGRCTEDMTEDELREFFSQYGDVMDVFIPKPFRAFAFVTFADDQIA
QSLCGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGGNPGGFGNQGGFGNSRGGGAGLGNNQGSNMGGGMNFGAFSINP
AMVAAAQAALQSSWGMMGMLASQQNQSGPSGNNQNQGNMQREPNQAFGSGNNSYSGSNSGAAIGWGSASNAGSGSGFNGG
FGSSMDSKSSGWGM*

Gene Symbol:TARDBP
Accession:XR_007058560
Location:EXON;NON-CODING

Gene Symbol:TARDBP
Accession:XR_007058562
Location:EXON;NON-CODING

Gene Symbol:TARDBP
Accession:XR_007058563
Location:EXON;NON-CODING

Gene Symbol:TARDBP
Accession:XR_007058564
Location:EXON;NON-CODING

Gene Symbol:TARDBP
Accession:XR_007058558
Location:EXON;NON-CODING

Gene Symbol:TARDBP
Accession:XR_007058559
Location:EXON;NON-CODING

Gene Symbol:TARDBP
Accession:XR_007058561
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002376547 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene TARDBP CLINVAR
OMIM 605078 CLINVAR