RGD:127253124 Rat Genome Database

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Variant: RGD:127253124 -  Homo sapiens

RGD ID: 127253124
RS ID: rs759517549
ClinVar ID: CV1105595
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FASN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 80,042,835
GRCh38 17 82,084,959
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004104.5:c.4410-6C>T
NC_000017.11:g.82084959G>A
NC_000017.10:g.80042835G>A
 08/01/2019 intron variant likely 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:XM_011523538
Location:INTRON

Gene Symbol:FASN
Accession:NM_004104
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001436951 CLINVAR
dbSNP (RS) rs759517549 CLINVAR
MedGen C0543888 CLINVAR
NCBI Gene FASN CLINVAR
OMIM 600212 CLINVAR