RGD:13703170 Rat Genome Database

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Variant: RGD:13703170 -  Homo sapiens

RGD ID: 13703170
RS ID: rs1555352516
ClinVar ID: CV539476
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSMA3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 58,724,718
GRCh38 14 58,258,000
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.9:g.58258000T>C
NC_000014.8:g.58724718T>C
NM_002788.4:c.404+2T>C
NM_002788.3:c.404+2T>C
More... 		03/01/2012 splice donor variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PSMA3
Accession:NM_152132
Location:INTRON

Gene Symbol:PSMA3
Accession:NM_002788
Location:INTRON

Gene Symbol:PSMA3
Accession:NR_038123
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:21953331   PMID:26524591  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000663432 CLINVAR
dbSNP (RS) rs1555352516 CLINVAR
MedGen C4749059 CLINVAR
NCBI Gene PSMA3 CLINVAR
OMIM 176843 CLINVAR
OMIM Allele 176843.0002 CLINVAR