RGD:13499991 Rat Genome Database

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Variant: RGD:13499991 -  Homo sapiens

RGD ID: 13499991
RS ID: rs565758653
ClinVar ID: CV469116
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FASN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 80,044,918
GRCh38 17 82,087,042
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.82087042G>A
NC_000017.10:g.80044918G>A
NM_004104.5:c.3427+8C>T
NM_004104.4:c.3427+8C>T
 03/01/2019 intron variant benign
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:FASN
Accession:NM_004104
Location:INTRON

Gene Symbol:FASN
Accession:XM_011523538
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000535022 CLINVAR
dbSNP (RS) rs565758653 CLINVAR
MedGen C0543888 CLINVAR
NCBI Gene FASN CLINVAR
OMIM 600212 CLINVAR