RGD:11659348 Rat Genome Database

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Variant: RGD:11659348 -  Homo sapiens

RGD ID: 11659348
RS ID: rs886061802
ClinVar ID: CV308934
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELOVL4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 80,631,381
GRCh38 6 79,921,664
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.79921664A>G
NC_000006.11:g.80631381A>G
NP_073563.1:p.Leu168=
NM_022726.4:c.502T>C
More... 		08/07/2022 synonymous variant likely benign|uncertain significance MACULAR DYSTROPHY WITH FLECKS, TYPE 3; none provided; STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ELOVL4
Accession:NM_022726
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLDSEPGSVLNVVSTALNDTVEFYRWTWSIADKRVENWPLMQSPWPTLSISTLYLLFVWLGPKWMKDREPFQMRLVLI
IYNFGMVLLNLFIFRELFMGSYNAGYSYICQSVDYSNNVHEVRIAAALWWYFVSKGVEYLDTVFFILRKKNNQVSFLHVY
HHCTMFTLWWIGIKWVAGGQAFFGAQLNSFIHVIMYSYYGLTAFGPWIQKYLWWKRYLTMLQLIQFHVTIGHTALSLYTD
CPFPKWMHWALIAYAISFIFLFLNFYIRTYKEPKKPKAGKTAMNGISANGVSKSEKQLMIENGKKQKNGKAKGD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000356888 CLINVAR
  RCV000762423 CLINVAR
dbSNP (RS) rs886061802 CLINVAR
MedGen C1838644 CLINVAR
  C3661900 CLINVAR
NCBI Gene ELOVL4 CLINVAR
OMIM 600110 CLINVAR
  605512 CLINVAR