RGD:401764198 Rat Genome Database

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Variant: RGD:401764198 -  Homo sapiens

RGD ID: 401764198
ClinVar ID: CV2725475
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APOC3  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 116,701,528
GRCh38 11 116,830,812
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000040.3:c.95T>A
NG_008949.1:g.5905T>A
NC_000011.10:g.116830812T>A
NC_000011.9:g.116701528T>A
More... 		05/24/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:APOC3
Accession:NM_000040
Location:EXON
Amino Acid Prediction: M to K (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPRVLLVVALLALLASARASEAEDASLLSFKQGYMKHATKTAKDALSSVQESQVAQQARGWVTDGFSSLKDYWSTVKDK
FSEFWDLDPEVRPTSAVAA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003258477 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene APOC3 CLINVAR
OMIM 107720 CLINVAR