RGD:11597895 Rat Genome Database

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Variant: RGD:11597895 -  Homo sapiens

RGD ID: 11597895
RS ID: rs113651566
ClinVar ID: CV281338
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHCR24  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 55,316,482
GRCh38 1 54,850,809
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.41440C>T
NC_000001.11:g.54850809G>A
NC_000001.10:g.55316482G>A
NM_014762.4:c.*1424C>T
More...
06/14/2016 3 prime utr variant 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 RCV000399002 CLINVAR
dbSNP (RS) rs113651566 CLINVAR
MedGen C1865596 CLINVAR
NCBI Gene DHCR24 CLINVAR
OMIM 602398 CLINVAR
  606418 CLINVAR