RGD:14702578 Rat Genome Database

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Variant: RGD:14702578 -  Homo sapiens

RGD ID: 14702578
RS ID: rs1313359281
ClinVar ID: CV626203
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SC5D  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 121,175,082
GRCh38 11 121,304,373
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006918.5:c.223C>T
NC_000011.9:g.121175082C>T
NM_006918.4:c.223C>T
NP_008849.2:p.Arg75Ter
More... 		07/09/2022 nonsense pathogenic|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_001024956
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLVLRVADYYFFTPYVYPATWPEDDIFRQAISLLIVTNVGAYILYFFCATLSYYFVFDHALMKHPQFLKNQVR*EIKFT
VQALPWISILTVALFLLEIRGYSKLHDDLGEFPYGLFELVVSIISFLFFTDMFIYWIHRGLHHRLVYKRLHKPHHIWKIP
TPFASHAFHPIDGFLQSLPYHIYPFIFPLHKVVYLSLYILVNIWTISIHDGDFRVPQILQPFINGSAHHTDHHMFFDYNY
GQYFTLWDRIGGSFKNPSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTKTE*

Gene Symbol:SC5D
Accession:NM_006918
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLVLRVADYYFFTPYVYPATWPEDDIFRQAISLLIVTNVGAYILYFFCATLSYYFVFDHALMKHPQFLKNQVR*EIKFT
VQALPWISILTVALFLLEIRGYSKLHDDLGEFPYGLFELVVSIISFLFFTDMFIYWIHRGLHHRLVYKRLHKPHHIWKIP
TPFASHAFHPIDGFLQSLPYHIYPFIFPLHKVVYLSLYILVNIWTISIHDGDFRVPQILQPFINGSAHHTDHHMFFDYNY
GQYFTLWDRIGGSFKNPSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTKTE*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000791037 CLINVAR
  RCV002535825 CLINVAR
dbSNP (RS) rs1313359281 CLINVAR
MedGen C1846421 CLINVAR
  C3661900 CLINVAR
NCBI Gene SC5D CLINVAR
OMIM 602286 CLINVAR
  607330 CLINVAR