RGD:8569094 Rat Genome Database

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Variant: RGD:8569094 -  Homo sapiens

RGD ID: 8569094
RS ID: rs777695770
ClinVar ID: CV44167
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPSM2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 109,445,857
GRCh38 1 108,903,235
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
NM_001321039.3:c.1062+1G>T
NC_000001.11:g.108903235G>T
NC_000001.10:g.109445857G>T
NG_028108.2:g.32886G>T
More... 		09/28/2021 splice donor variant pathogenic neonatal/infancy <1 / 1 000 000 AllHighlyPenetrant; 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; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GPSM2
Accession:XM_011541302
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_006710589
Location:INTRON

Gene Symbol:GPSM2
Accession:NM_013296
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_017001097
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_011541303
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_017001098
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_047418723
Location:INTRON

Gene Symbol:GPSM2
Accession:NM_001321039
Location:INTRON

Gene Symbol:GPSM2
Accession:NM_001321038
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_047418724
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:22578326   PMID:25741868   PMID:27312216  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000029166 CLINVAR
  RCV000507416 CLINVAR
  RCV001731315 CLINVAR
dbSNP (RS) rs777695770 CLINVAR
MedGen C1858695 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene GPSM2 CLINVAR
OMIM 604213 CLINVAR
  609245 CLINVAR
OMIM Allele 609245.0006 CLINVAR