RGD:405086951 Rat Genome Database

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Pathways
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Variant: RGD:405086951 -  Homo sapiens

RGD ID: 405086951
ClinVar ID: CV2865910
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LIPG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 47,110,092
GRCh38 18 49,583,722
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001308006.2:c.1102C>T
NC_000018.9:g.47110092C>T
NP_001294935.1:p.Arg368Trp
NP_006024.1:p.Arg442Trp
More... 		11/14/2023 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LIPG
Accession:NM_001308006
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 368
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNSVPLLCFWSLCYCFAAGSPVPFGPEGRLEDKLHKPKATQTEVKPSVRFNLRTSKDPEHEGCYLSVGHSQPLEDCSFN
MTAKTFFIIHGWTMSGIFENWLHKLVSALHTREKDANVVVVDWLPLAHQLYTDAVNNTRVVGHSIARMLDWLQEKDDFSL
GNVHLIGYSLGAHVAGYAGNFVKGTVGRITAITEVVKCEHERAVHLFVDSLVNQDKPSFAFQCTDSNRFKKGICLSCRKN
RCNSIGYNAKKMRNKRNSKMYLKTRAGMPFRVYHYQMKIHVFSYKNMGEIEPTFYVTLYGTNADSQTLPLEIVERIEQNA
TNTFLVYTEEDLGDLLKIQLTWEGASQSWYNLWKEFRSYLSQPRNPGWELNIRRIRVKSGETQRKLTFCTEDPENTSISP
GRELWFRKCRDGWRMKNETSPTVELP*

Gene Symbol:LIPG
Accession:NM_006033
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 442
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNSVPLLCFWSLCYCFAAGSPVPFGPEGRLEDKLHKPKATQTEVKPSVRFNLRTSKDPEHEGCYLSVGHSQPLEDCSFN
MTAKTFFIIHGWTMSGIFENWLHKLVSALHTREKDANVVVVDWLPLAHQLYTDAVNNTRVVGHSIARMLDWLQEKDDFSL
GNVHLIGYSLGAHVAGYAGNFVKGTVGRITGLDPAGPMFEGADIHKRLSPDDADFVDVLHTYTRSFGLSIGIQMPVGHID
IYPNGGDFQPGCGLNDVLGSIAYGTITEVVKCEHERAVHLFVDSLVNQDKPSFAFQCTDSNRFKKGICLSCRKNRCNSIG
YNAKKMRNKRNSKMYLKTRAGMPFRVYHYQMKIHVFSYKNMGEIEPTFYVTLYGTNADSQTLPLEIVERIEQNATNTFLV
YTEEDLGDLLKIQLTWEGASQSWYNLWKEFRSYLSQPRNPGWELNIRRIRVKSGETQRKLTFCTEDPENTSISPGRELWF
RKCRDGWRMKNETSPTVELP*

Gene Symbol:LIPG
Accession:XM_047437944
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003549524 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LIPG CLINVAR
OMIM 603684 CLINVAR