RGD:11629127 Rat Genome Database

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Variant: RGD:11629127 -  Homo sapiens

RGD ID: 11629127
RS ID: rs770706285
ClinVar ID: CV347500
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WRAP53  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 7,604,873
GRCh38 17 7,701,555
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001143990.2:c.822+6G>A
LRG_375t1:c.822+6G>A
NM_018081.2:c.822+6G>A
LRG_375:g.20485G>A
More...
06/14/2016 intron variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:WRAP53
Accession:NM_001143990
Location:INTRON

Gene Symbol:WRAP53
Accession:NM_001143991
Location:INTRON

Gene Symbol:WRAP53
Accession:NM_018081
Location:INTRON

Gene Symbol:WRAP53
Accession:NM_001143992
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000315520 CLINVAR
  RCV002521127 CLINVAR
dbSNP (RS) rs770706285 CLINVAR
MedGen CN239315 CLINVAR
  CN517202 CLINVAR
NCBI Gene WRAP53 CLINVAR
OMIM 612661 CLINVAR