RGD:9687070 Rat Genome Database

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Variant: RGD:9687070 -  Homo sapiens

RGD ID: 9687070
RS ID: rs193921133
ClinVar ID: CV171443
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNGT1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 93,536,155
GRCh38 7 93,906,843
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
NC_000007.14:g.93906843G>A
NC_000007.13:g.93536155G>A
NG_051196.1:g.5336G>A
NM_021955.3:c.96+1G>A
More... 		splice donor variant uncertain significance adulthood 1-9 / 100 000 Prostate cancer
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GNGT1
Accession:NM_021955
Location:INTRON

Gene Symbol:GNGT1
Accession:NM_001329426
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:23265383  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000149289 CLINVAR
dbSNP (RS) rs193921133 CLINVAR
MedGen C0376358 CLINVAR
NCBI Gene GNGT1 CLINVAR
OMIM 176807 CLINVAR
  189970 CLINVAR
SNOMED CT 399068003 CLINVAR