RGD:8696196 Rat Genome Database

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Variant: RGD:8696196 -  Homo sapiens

RGD ID: 8696196
RS ID: rs2294301
ClinVar ID: CV132395
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HAO1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 7,885,184
GRCh38 20 7,904,537
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_046733.1:g.40910G>C
NC_000020.11:g.7904537C>G
NC_000020.10:g.7885184C>G
NM_017545.3:c.721+1617G>C
More...
03/01/2014 intron|intron variant association Calcium oxalate urolithiasis
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:HAO1
Accession:NM_017545
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24886237  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000128600 CLINVAR
dbSNP (RS) rs2294301 CLINVAR
MedGen C1833683 CLINVAR
NCBI Gene HAO1 CLINVAR
OMIM 167030 CLINVAR
  605023 CLINVAR
SNOMED CT 444717006 CLINVAR