RGD:13530080 Rat Genome Database

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Variant: RGD:13530080 -  Homo sapiens

RGD ID: 13530080
RS ID: rs372955306
ClinVar ID: CV497961
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPSM2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 109,444,578
GRCh38 1 108,901,956
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.108901956C>T
NC_000001.10:g.109444578C>T
NG_028108.2:g.31607C>T
NM_001321038.2:c.953+11C>T
More... 		10/17/2017 intron variant likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:GPSM2
Accession:XM_047418723
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_017001097
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_047418724
Location:INTRON

Gene Symbol:GPSM2
Accession:NM_001321039
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_006710589
Location:INTRON

Gene Symbol:GPSM2
Accession:NM_001321038
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_017001098
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_011541303
Location:INTRON

Gene Symbol:GPSM2
Accession:NM_013296
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_011541302
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000600555 CLINVAR
  RCV002531579 CLINVAR
dbSNP (RS) rs372955306 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene GPSM2 CLINVAR
OMIM 609245 CLINVAR