RGD:152116331 Rat Genome Database

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Variant: RGD:152116331 -  Homo sapiens

RGD ID: 152116331
RS ID: rs546653212
ClinVar ID: CV1610931
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP51A1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 91,755,758
GRCh38 7 92,126,444
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001146152.2:c.281-17C>G
NM_000786.4:c.596-17C>G
NG_007968.1:g.13083C>G
NC_000007.14:g.92126444G>C
More... 		08/17/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CYP51A1
Accession:NM_000786
Location:INTRON

Gene Symbol:CYP51A1
Accession:NM_001146152
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002135141 CLINVAR
dbSNP (RS) rs546653212 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CYP51A1 CLINVAR
OMIM 601637 CLINVAR