RGD:28901150 Rat Genome Database

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Variant: RGD:28901150 -  Homo sapiens

RGD ID: 28901150
RS ID: rs570720353
ClinVar ID: CV868612
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SC5D  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 121,177,080
GRCh38 11 121,306,371
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.9:g.121177080C>T
NM_006918.5:c.344-15C>T
NG_009446.1:g.18693C>T
NC_000011.10:g.121306371C>T
More... 		05/29/2021 intron variant benign|uncertain significance none provided; SC5D deficiency; Sterol c5-desaturase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SC5D
Accession:NM_006918
Location:INTRON

Gene Symbol:SC5D
Accession:NM_001024956
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001104113 CLINVAR
  RCV002069726 CLINVAR
dbSNP (RS) rs570720353 CLINVAR
MedGen C1846421 CLINVAR
  C3661900 CLINVAR
NCBI Gene SC5D CLINVAR
OMIM 602286 CLINVAR
  607330 CLINVAR