RGD:12742653 Rat Genome Database

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Variant: RGD:12742653 -  Homo sapiens

RGD ID: 12742653
RS ID: rs1057518124
ClinVar ID: CV359947
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EXOSC3  LOC127814751  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 37,784,962
GRCh38 9 37,784,965
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032780.1:g.5128T>G
NC_000009.12:g.37784965A>C
NC_000009.11:g.37784962A>C
NP_057126.2:p.Val27Gly
More... 		06/29/2016 missense variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:EXOSC3
Accession:NM_001002269
Location:EXON
Amino Acid Prediction: V to G (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEPASVAAESLAGSRARAARTVLGQGVLPGEELLLPEQEDAEGPGGAVERPLSLNARACSRVRVVCGPGLRRCGDRLLV
TKCGRLRHKEPGSGSGGGVYWVDSQQKRYVPVKGDHVIGIVTAKSGDIFKVDVGGSEPASLSYLSFEGATKRNRPNVQAI
SSRL*

Gene Symbol:EXOSC3
Accession:NM_016042
Location:EXON
Amino Acid Prediction: V to G (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEPASVAAESLAGSRARAARTVLGQGVLPGEELLLPEQEDAEGPGGAVERPLSLNARACSRVRVVCGPGLRRCGDRLLV
TKCGRLRHKEPGSGSGGGVYWVDSQQKRYVPVKGDHVIGIVTAKSGDIFKVDVGGSEPASLSYLSFEGATKRNRPNVQVG
DLIYGQFVVANKDMEPEMVCIDSCGRANGMGVIGQDGLLFKVTLGLIRKLLAPDCEIIQEVGKLYPLEIVFGMNGRIWVK
AKTIQQTLILANILEACEHMTSDQRKQIFSRLAES*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000414156 CLINVAR
dbSNP (RS) rs1057518124 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene EXOSC3 CLINVAR
OMIM 606489 CLINVAR