RGD:405137013 Rat Genome Database

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Variant: RGD:405137013 -  Homo sapiens

RGD ID: 405137013
ClinVar ID: CV3125341
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELOVL5  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 53,141,066
GRCh38 6 53,276,268
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001242830.2:c.247-12C>G
NM_001301856.2:c.247-12C>G
NM_021814.5:c.247-12C>G
NM_001242828.2:c.328-12C>G
More... 		05/07/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ELOVL5
Accession:NM_021814
Location:INTRON

Gene Symbol:ELOVL5
Accession:NM_001242831
Location:INTRON

Gene Symbol:ELOVL5
Accession:NM_001242828
Location:INTRON

Gene Symbol:ELOVL5
Accession:NM_001242830
Location:INTRON

Gene Symbol:ELOVL5
Accession:NM_001301856
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003816448 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ELOVL5 CLINVAR
OMIM 611805 CLINVAR