RGD:11601538 Rat Genome Database

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Variant: RGD:11601538 -  Homo sapiens

RGD ID: 11601538
RS ID: rs240307
ClinVar ID: CV308938
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELOVL4  LOC124901350  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 80,657,232
GRCh38 6 79,947,515
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.79947515G>C
NC_000006.11:g.80657232G>C
NM_022726.4:c.-236C>G
NG_009108.2:g.5084C>G
More... 		06/14/2016 5 prime utr variant uncertain significance MACULAR DYSTROPHY WITH FLECKS, TYPE 3; 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:5UTRS;EXON

Gene Symbol:LOC124901350
Accession:XM_047419628
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGTGAGKANEATCAGRGQGGAQVSRSRSTARACASPVGVAPLSAASLRQRVPILGREGGRRGGRPPAPARGHVTPAEEI
GGAAARGCRLVQRTVLAAGPAPPPRLSPGNLDDAFRLALPSAASPPPRRLEEQEKTQPGRRR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000283327 CLINVAR
dbSNP (RS) rs240307 CLINVAR
MedGen C1838644 CLINVAR
NCBI Gene ELOVL4 CLINVAR
OMIM 600110 CLINVAR
  605512 CLINVAR