RGD:8568964 Rat Genome Database

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Variant: RGD:8568964 -  Homo sapiens

RGD ID: 8568964
RS ID: rs672601332
ClinVar ID: CV40352
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EXOSC3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 37,780,792
GRCh38 9 37,780,795
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_032780.1:g.9298T>C
NC_000009.12:g.37780795A>G
NC_000009.11:g.37780792A>G
NP_057126.2:p.Trp238Arg
More...
05/13/2023 3 prime utr variant|missense variant pathogenic|likely pathogenic neonatal/infancy <1 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EXOSC3
Accession:NM_001002269
Location:3UTRS;EXON

Gene Symbol:EXOSC3
Accession:NM_016042
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 238
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEPASVAAESLAGSRARAARTVLGQVVLPGEELLLPEQEDAEGPGGAVERPLSLNARACSRVRVVCGPGLRRCGDRLLV
TKCGRLRHKEPGSGSGGGVYWVDSQQKRYVPVKGDHVIGIVTAKSGDIFKVDVGGSEPASLSYLSFEGATKRNRPNVQVG
DLIYGQFVVANKDMEPEMVCIDSCGRANGMGVIGQDGLLFKVTLGLIRKLLAPDCEIIQEVGKLYPLEIVFGMNGRIRVK
AKTIQQTLILANILEACEHMTSDQRKQIFSRLAES*

Variant Samples
Additional References at PubMed
PMID:22544365   PMID:27777260   PMID:28053271   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000024370 CLINVAR
dbSNP (RS) rs672601332 CLINVAR
MedGen C3553449 CLINVAR
NCBI Gene EXOSC3 CLINVAR
OMIM 606489 CLINVAR
  614678 CLINVAR
OMIM Allele 606489.0005 CLINVAR