RGD:156236856 Rat Genome Database

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Variant: RGD:156236856 -  Homo sapiens

RGD ID: 156236856
ClinVar ID: CV2224159
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELOVL5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 53,134,046
GRCh38 6 53,269,248
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.53269248G>A
NC_000006.11:g.53134046G>A
NM_001242828.1:c.860C>T
NP_001229757.1:p.Ser287Phe
More... 		06/18/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ELOVL5
Accession:NM_001242830
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHFDASLSTYFKALLGPRDTRVKGWFLLDNYIPTFICSVIYLLIVWLGPKYMRNKQPFSCRGILVVYNLGLTLLSLYMF
CELVTGVWEGKYNFFCQGTRTAGESDMKIIRVLWWYYFSKLIEFMDTFFFILRKNNHQITVLHVYHHASMLNIWWFVMNW
VPCGHSSVCADNHPDQLRGHLAVHIPSWLVVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEWVHGCCEWTHQ
QLFTPGKQCEAKEAAEGLKSKN*

Gene Symbol:ELOVL5
Accession:NM_001242828
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 287
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHFDASLSTYFKALLGPRDTRVKGWFLLDNYIPTFICSVIYLLIVWLGPKYMRNKQPFSCRGILVVYNLGLTLLSLYMF
CESKREQPRRSACASRTDPSTQQQLPENRLVTGVWEGKYNFFCQGTRTAGESDMKIIRVLWWYYFSKLIEFMDTFFFILR
KNNHQITVLHVYHHASMLNIWWFVMNWVPCGHSYFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQLLQFVLT
IIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTNFYIQTYNKKGAFRRKDHLKDHQNGSMAAVNGHTNSFSPLENNVKP
RKLRKD*

Gene Symbol:ELOVL5
Accession:NM_021814
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 260
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHFDASLSTYFKALLGPRDTRVKGWFLLDNYIPTFICSVIYLLIVWLGPKYMRNKQPFSCRGILVVYNLGLTLLSLYMF
CELVTGVWEGKYNFFCQGTRTAGESDMKIIRVLWWYYFSKLIEFMDTFFFILRKNNHQITVLHVYHHASMLNIWWFVMNW
VPCGHSYFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQLLQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMI
SLIALFTNFYIQTYNKKGAFRRKDHLKDHQNGSMAAVNGHTNSFSPLENNVKPRKLRKD*

Gene Symbol:ELOVL5
Accession:NM_001301856
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 260
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHFDASLSTYFKALLGPRDTRVKGWFLLDNYIPTFICSVIYLLIVWLGPKYMRNKQPFSCRGILVVYNLGLTLLSLYMF
CELVTGVWEGKYNFFCQGTRTAGESDMKIIRVLWWYYFSKLIEFMDTFFFILRKNNHQITVLHVYHHASMLNIWWFVMNW
VPCGHSYFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQLLQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMI
SLIALFTNFYIQTYNKKGAFRRKDHLKDHQNGSMAAVNGHTNSFSPLENNVKPRKLRKD*

Gene Symbol:ELOVL5
Accession:NM_001242831
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002713122 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ELOVL5 CLINVAR
OMIM 611805 CLINVAR