RGD:15138590 Rat Genome Database

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Variant: RGD:15138590 -  Homo sapiens

RGD ID: 15138590
RS ID: rs201347320
ClinVar ID: CV779454
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACSL5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 114,168,170
GRCh38 10 112,408,412
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016234.3:c.601-10C>T
NM_203380.2:c.433-10C>T
NM_001387037.1:c.601-10C>T
NM_016234.4:c.601-10C>T
More... 		06/12/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ACSL5
Accession:NM_203380
Location:INTRON

Gene Symbol:ACSL5
Accession:NM_001387037
Location:INTRON

Gene Symbol:ACSL5
Accession:NM_203379
Location:INTRON

Gene Symbol:FACL5
Accession:NM_016234
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000965817 CLINVAR
dbSNP (RS) rs201347320 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ACSL5 CLINVAR
OMIM 605677 CLINVAR