RGD:28902314 Rat Genome Database

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Variant: RGD:28902314 -  Homo sapiens

RGD ID: 28902314
RS ID: rs546816764
ClinVar ID: CV867413
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SC5D  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 121,181,920
GRCh38 11 121,311,211
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006918.4:c.*3699G>A
NM_006918.5:c.*3699G>A
NG_009446.1:g.23533G>A
NC_000011.10:g.121311211G>A
More... 		01/12/2018 3 prime utr variant likely benign 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:3UTRS;EXON

Gene Symbol:SC5D
Accession:NM_001024956
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001104612 CLINVAR
dbSNP (RS) rs546816764 CLINVAR
MedGen C1846421 CLINVAR
NCBI Gene SC5D CLINVAR
OMIM 602286 CLINVAR
  607330 CLINVAR