RGD:8597503 Rat Genome Database

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Variant: RGD:8597503 -  Homo sapiens

RGD ID: 8597503
RS ID: rs104894296
ClinVar ID: CV22394
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SC5D  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 121,177,953
GRCh38 11 121,307,244
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_009446.1:g.19566G>A
NC_000011.10:g.121307244G>A
NC_000011.9:g.121177953G>A
NP_008849.2:p.Gly211Asp
More...
04/03/2008 missense|missense variant pathogenic neonatal/infancy <1 / 1 000 000 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:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLVLRVADYYFFTPYVYPATWPEDDIFRQAISLLIVTNVGAYILYFFCATLSYYFVFDHALMKHPQFLKNQVRREIKFT
VQALPWISILTVALFLLEIRGYSKLHDDLGEFPYGLFELVVSIISFLFFTDMFIYWIHRGLHHRLVYKRLHKPHHIWKIP
TPFASHAFHPIDGFLQSLPYHIYPFIFPLHKVVYLSLYILVNIWTISIHDDDFRVPQILQPFINGSAHHTDHHMFFDYNY
GQYFTLWDRIGGSFKNPSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTKTE*

Gene Symbol:SC5D
Accession:NM_001024956
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLVLRVADYYFFTPYVYPATWPEDDIFRQAISLLIVTNVGAYILYFFCATLSYYFVFDHALMKHPQFLKNQVRREIKFT
VQALPWISILTVALFLLEIRGYSKLHDDLGEFPYGLFELVVSIISFLFFTDMFIYWIHRGLHHRLVYKRLHKPHHIWKIP
TPFASHAFHPIDGFLQSLPYHIYPFIFPLHKVVYLSLYILVNIWTISIHDDDFRVPQILQPFINGSAHHTDHHMFFDYNY
GQYFTLWDRIGGSFKNPSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTKTE*

Variant Samples
Additional References at PubMed
PMID:12189593  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000007780 CLINVAR
dbSNP (RS) rs104894296 CLINVAR
MedGen C1846421 CLINVAR
NCBI Gene SC5D CLINVAR
OMIM 602286 CLINVAR
  607330 CLINVAR
OMIM Allele 602286.0002 CLINVAR