rs1554521007 Rat Genome Database

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Variant: rs1554521007 -  Homo sapiens

RGD ID: 13616144
RS ID: rs1554521007
ClinVar ID: CV523453
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WRN  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 30,938,821
GRCh38 8 31,081,305
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_524:g.53044T>G
NG_008870.1:g.53044T>G
NC_000008.11:g.31081305T>G
NC_000008.10:g.30938821T>G
More... 		09/13/2017 intron variant likely benign Werner's syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:WRN
Accession:NM_000553
Location:INTRON

Gene Symbol:WRN
Accession:XM_011544640
Location:INTRON

Gene Symbol:WRN
Accession:XM_011544639
Location:INTRON

Gene Symbol:WRN
Accession:XR_949470
Location:INTRON;NON-CODING

Gene Symbol:WRN
Accession:XR_949472
Location:INTRON;NON-CODING

Gene Symbol:WRN
Accession:XR_949471
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000633273 CLINVAR
dbSNP (RS) rs1554521007 CLINVAR
MedGen C0043119 CLINVAR
NCBI Gene WRN CLINVAR
OMIM 277700 CLINVAR
  604611 CLINVAR
SNOMED CT 51626007 CLINVAR