RGD:26888096 Rat Genome Database

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Variant: RGD:26888096 -  Homo sapiens

RGD ID: 26888096
RS ID: rs200070820
ClinVar ID: CV832582
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELOVL4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 80,636,020
GRCh38 6 79,926,303
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_022726.4:c.179T>C
NC_000006.12:g.79926303A>G
NC_000006.11:g.80636020A>G
NM_022726.3:c.179T>C
More... 		01/07/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ELOVL4
Accession:NM_022726
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLDSEPGSVLNVVSTALNDTVEFYRWTWSIADKRVENWPLMQSPWPTLSISTLYLLFAWLGPKWMKDREPFQMRLVLI
IYNFGMVLLNLFIFRELFMGSYNAGYSYICQSVDYSNNVHEVRIAAALWWYFVSKGVEYLDTVFFILRKKNNQVSFLHVY
HHCTMFTLWWIGIKWVAGGQAFFGAQLNSFIHVIMYSYYGLTAFGPWIQKYLWWKRYLTMLQLIQFHVTIGHTALSLYTD
CPFPKWMHWALIAYAISFIFLFLNFYIRTYKEPKKPKAGKTAMNGISANGVSKSEKQLMIENGKKQKNGKAKGD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001057093 CLINVAR
dbSNP (RS) rs200070820 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ELOVL4 CLINVAR
OMIM 605512 CLINVAR