RGD:11094811 Rat Genome Database

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Variant: RGD:11094811 -  Homo sapiens

RGD ID: 11094811
RS ID: rs184863735
ClinVar ID: CV228253
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPSM2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 109,439,476
GRCh38 1 108,896,854
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.108896854A>G
NC_000001.10:g.109439476A>G
NG_028108.2:g.26505A>G
LRG_1373:g.26505A>G
More... 		09/26/2018 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:GPSM2
Accession:XM_006710589
Location:5UTRS;INTRON

Gene Symbol:GPSM2
Accession:XM_011541302
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_011541303
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_017001097
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_047418723
Location:INTRON

Gene Symbol:GPSM2
Accession:NM_013296
Location:INTRON

Gene Symbol:GPSM2
Accession:NM_001321038
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_017001098
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_047418724
Location:INTRON

Gene Symbol:GPSM2
Accession:NM_001321039
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000221520 CLINVAR
  RCV001697247 CLINVAR
  RCV003955273 CLINVAR
dbSNP (RS) rs184863735 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene GPSM2 CLINVAR
OMIM 609245 CLINVAR