RGD:11592674 Rat Genome Database

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Variant: RGD:11592674 -  Homo sapiens

RGD ID: 11592674
RS ID: rs116490123
ClinVar ID: CV280866
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHCR24  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 55,317,514
GRCh38 1 54,851,841
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008839.1:g.40408C>T
NC_000001.11:g.54851841G>A
NC_000001.10:g.55317514G>A
NM_014762.4:c.*392C>T
More... 		01/13/2018 3 prime utr variant likely benign|uncertain significance antenatal <1 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DHCR24
Accession:NM_014762
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000340968 CLINVAR
dbSNP (RS) rs116490123 CLINVAR
MedGen C1865596 CLINVAR
NCBI Gene DHCR24 CLINVAR
OMIM 602398 CLINVAR
  606418 CLINVAR