RGD:11587145 Rat Genome Database

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Variant: RGD:11587145 -  Homo sapiens

RGD ID: 11587145
RS ID: rs749825634
ClinVar ID: CV275824
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPSM2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 109,419,702
GRCh38 1 108,877,080
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.108877080C>G
NC_000001.10:g.109419702C>G
NG_028108.2:g.6731C>G
NM_001321038.2:c.-165C>G
More... 		06/14/2016 5 prime utr variant uncertain significance Deafness, autosomal recessive 82; Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction; Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:GPSM2
Accession:XM_017001098
Location:5UTRS;EXON

Gene Symbol:GPSM2
Accession:XM_047418724
Location:5UTRS;EXON

Gene Symbol:GPSM2
Accession:XM_017001097
Location:5UTRS;EXON

Gene Symbol:GPSM2
Accession:NM_001321039
Location:5UTRS;EXON

Gene Symbol:GPSM2
Accession:NM_013296
Location:5UTRS;EXON

Gene Symbol:GPSM2
Accession:XM_011541302
Location:5UTRS;EXON

Gene Symbol:GPSM2
Accession:NM_001321038
Location:5UTRS;EXON

Gene Symbol:GPSM2
Accession:XM_047418723
Location:5UTRS;EXON

Gene Symbol:GPSM2
Accession:XM_011541303
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000293161 CLINVAR
dbSNP (RS) rs749825634 CLINVAR
MedGen C1858695 CLINVAR
NCBI Gene GPSM2 CLINVAR
  LOC129931083 CLINVAR
OMIM 604213 CLINVAR
  609245 CLINVAR