RGD:14742967 Rat Genome Database

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Variant: RGD:14742967 -  Homo sapiens

RGD ID: 14742967
RS ID: rs705268
ClinVar ID: CV656980
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPSM2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 109,466,858
GRCh38 1 108,924,236
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001321038.2:c.1815+22G>A
NM_013296.5:c.1815+22G>A
NG_028108.2:g.53887G>A
NC_000001.11:g.108924236G>A
More... 		08/10/2021 intron variant benign 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_047418724
Location:INTRON

Gene Symbol:GPSM2
Accession:NM_001321039
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_017001097
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_006710589
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_017001098
Location:INTRON

Gene Symbol:GPSM2
Accession:NM_013296
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_011541303
Location:INTRON

Gene Symbol:GPSM2
Accession:NM_001321038
Location:INTRON

Gene Symbol:GPSM2
Accession:XM_047418723
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000841744 CLINVAR
  RCV001702734 CLINVAR
dbSNP (RS) rs705268 CLINVAR
MedGen C1858695 CLINVAR
  C3661900 CLINVAR
NCBI Gene GPSM2 CLINVAR
OMIM 604213 CLINVAR
  609245 CLINVAR