RGD:11579995 Rat Genome Database

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Variant: RGD:11579995 -  Homo sapiens

RGD ID: 11579995
RS ID: rs879851088
ClinVar ID: CV268513
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DPYS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 105,459,732
GRCh38 8 104,447,504
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NM_001385.3:c.424-1G>A
NG_008840.2:g.24546G>A
NC_000008.11:g.104447504C>T
NC_000008.10:g.105459732C>T
More... 		12/07/2022 splice acceptor variant pathogenic|likely pathogenic <1 / 1 000 000 none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DPYS
Accession:XM_047421416
Location:INTRON

Gene Symbol:DPYS
Accession:NM_001385
Location:INTRON

Gene Symbol:DPYS
Accession:XM_005250818
Location:INTRON

Gene Symbol:DPYS
Accession:XM_011516903
Location:INTRON

Gene Symbol:DPYS
Accession:XM_006716518
Location:INTRON

Gene Symbol:DPYS
Accession:XM_017013167
Location:INTRON

Gene Symbol:DPYS
Accession:XM_047421419
Location:INTRON

Gene Symbol:DPYS
Accession:XM_047421418
Location:INTRON

Gene Symbol:DPYS
Accession:XM_047421415
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:20362666   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000319296 CLINVAR
  RCV003422194 CLINVAR
dbSNP (RS) rs879851088 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DPYS CLINVAR
OMIM 613326 CLINVAR