RGD:150481123 Rat Genome Database

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Variant: RGD:150481123 -  Homo sapiens

RGD ID: 150481123
RS ID: rs28495975
ClinVar ID: CV1222102
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP51A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 91,758,385
GRCh38 7 92,129,071
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.-24-15C>T
NM_000786.4:c.292-15C>T
NG_007968.1:g.10456C>T
NC_000007.14:g.92129071G>A
More... 		11/30/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CYP51A1
Accession:NM_001146152
Location:5UTRS;INTRON

Gene Symbol:CYP51A1
Accession:NM_000786
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001616900 CLINVAR
dbSNP (RS) rs28495975 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CYP51A1 CLINVAR
OMIM 601637 CLINVAR