RGD:13538410 Rat Genome Database

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Variant: RGD:13538410 -  Homo sapiens

RGD ID: 13538410
RS ID: rs1554584165
ClinVar ID: CV502051
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP7B1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 65,527,569
GRCh38 8 64,615,012
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008338.2:g.188780A>G
NC_000008.11:g.64615012T>C
NC_000008.10:g.65527569T>C
NM_004820.3:c.1057+14A>G
More... 		10/05/2017 intron variant likely benign none provided
Disease Annotations     Click to see Annotation Detail View
paraplegia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CYP7B1
Accession:NM_004820
Location:INTRON

Gene Symbol:CYP7B1
Accession:XM_017014002
Location:INTRON

Gene Symbol:CYP7B1
Accession:NM_001324112
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001697999 CLINVAR
  RCV003767617 CLINVAR
dbSNP (RS) rs1554584165 CLINVAR
MedGen C0037772 CLINVAR
  C3661900 CLINVAR
NCBI Gene CYP7B1 CLINVAR
OMIM 603711 CLINVAR