RGD:11599329 Rat Genome Database

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Variant: RGD:11599329 -  Homo sapiens

RGD ID: 11599329
RS ID: rs191075257
ClinVar ID: CV305760
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP7B1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 65,711,288
GRCh38 8 64,798,731
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.5061C>T
NC_000008.11:g.64798731G>A
NC_000008.10:g.65711288G>A
NM_004820.3:c.-144C>T
More...
06/14/2016 5 prime utr variant uncertain significance Autosomal recessive spastic paraplegia; SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP7B1
Accession:NM_004820
Location:5UTRS;EXON

Gene Symbol:CYP7B1
Accession:NM_001324112
Location:5UTRS;EXON

Gene Symbol:CYP7B1
Accession:XM_017014002
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000264626 CLINVAR
dbSNP (RS) rs191075257 CLINVAR
MedGen C1849115 CLINVAR
NCBI Gene CYP7B1 CLINVAR
OMIM 270800 CLINVAR
  603711 CLINVAR