RGD:150420639 Rat Genome Database

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Variant: RGD:150420639 -  Homo sapiens

RGD ID: 150420639
RS ID: rs146574215
ClinVar ID: CV1196822
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP27A1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 219,674,689
GRCh38 2 218,809,966
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000784.4:c.446+199G>T
NG_007959.1:g.33218G>T
NC_000002.12:g.218809966G>T
NC_000002.11:g.219674689G>T
12/24/2019 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CYP27A1
Accession:NM_000784
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001577702 CLINVAR
dbSNP (RS) rs146574215 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CYP27A1 CLINVAR
OMIM 606530 CLINVAR