RGD:155665694 Rat Genome Database

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Variant: RGD:155665694 -  Homo sapiens

RGD ID: 155665694
ClinVar ID: CV1813888
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LPL  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 19,797,030
GRCh38 8 19,939,519
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1298t1:c.79G>T
NM_000237.3:c.79G>T
LRG_1298:g.42803G>T
NG_008855.2:g.42803G>T
More... 		12/24/2021 missense variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:LPL
Accession:NM_000237
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESKALLVLTLAVWLQSLTASRGGVASADQRRDFIDIESKFALRTPEDTAEDTCHLIPGVAESVATCHFNHSSKTFMVIH
GWTVTGMYESWVPKLVAALYKREPDSNVIVVDWLSRAQEHYPVSAGYTKLVGQDVARFINWMEEEFNYPLDNVHLLGYSL
GAHAAGIAGSLTNKKVNRITGLDPAGPNFEYAEAPSRLSPDDADFVDVLHTFTRGSPGRSIGIQKPVGHVDIYPNGGTFQ
PGCNIGEAIRVIAERGLGDVDQLVKCSHERSIHLFIDSLLNEENPSKAYRCSSKEAFEKGLCLSCRKNRCNNLGYEINKV
RAKRSSKMYLKTRSQMPYKVFHYQVKIHFSGTESETHTNQAFEISLYGTVAESENIPFTLPEVSTNKTYSFLIYTEVDIG
ELLMLKLKWKSDSYFSWSDWWSSPGFAIQKIRVKAGETQKKVIFCSREKVSHLQKGKAPAVFVKCHDKSLNKKSG*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002419154 CLINVAR
MedGen CN230736 CLINVAR
NCBI Gene LPL CLINVAR
OMIM 609708 CLINVAR