RGD:402494470 Rat Genome Database

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Variant: RGD:402494470 -  Homo sapiens

RGD ID: 402494470
ClinVar ID: CV2874384
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LIPG  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 47,095,828
GRCh38 18 49,569,458
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.481G>A
NM_006033.4:c.481G>A
NC_000018.10:g.49569458G>A
NC_000018.9:g.47095828G>A
More...
09/18/2023 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LIPG
Accession:XM_047437944
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSFSRDRLPSGRRVSGKCPPPPLGMAVGRGGSGCPEEGSGRKLELLESQLPAERAREEAGPSVRRPRDKLHKPKATQTE
VKPSVRFNLRTSKDPEHEGCYLSVGHSQPLEDCSFNMTAKTFFIIHGWTMSGIFENWLHKLVSALHTREKDANVVVVDWL
PLAHQLYTDAVNNTRVVGHSIARMLDWLQEKDDFSLRNVHLIGYSLGAHVAGYAGNFVKGTVGRITAGLRSHLHSAHSDL
TCNQDSLTRCT*

Gene Symbol:LIPG
Accession:NM_006033
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNSVPLLCFWSLCYCFAAGSPVPFGPEGRLEDKLHKPKATQTEVKPSVRFNLRTSKDPEHEGCYLSVGHSQPLEDCSFN
MTAKTFFIIHGWTMSGIFENWLHKLVSALHTREKDANVVVVDWLPLAHQLYTDAVNNTRVVGHSIARMLDWLQEKDDFSL
RNVHLIGYSLGAHVAGYAGNFVKGTVGRITGLDPAGPMFEGADIHKRLSPDDADFVDVLHTYTRSFGLSIGIQMPVGHID
IYPNGGDFQPGCGLNDVLGSIAYGTITEVVKCEHERAVHLFVDSLVNQDKPSFAFQCTDSNRFKKGICLSCRKNRCNSIG
YNAKKMRNKRNSKMYLKTRAGMPFRVYHYQMKIHVFSYKNMGEIEPTFYVTLYGTNADSQTLPLEIVERIEQNATNTFLV
YTEEDLGDLLKIQLTWEGASQSWYNLWKEFRSYLSQPRNPGRELNIRRIRVKSGETQRKLTFCTEDPENTSISPGRELWF
RKCRDGWRMKNETSPTVELP*

Gene Symbol:LIPG
Accession:NM_001308006
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNSVPLLCFWSLCYCFAAGSPVPFGPEGRLEDKLHKPKATQTEVKPSVRFNLRTSKDPEHEGCYLSVGHSQPLEDCSFN
MTAKTFFIIHGWTMSGIFENWLHKLVSALHTREKDANVVVVDWLPLAHQLYTDAVNNTRVVGHSIARMLDWLQEKDDFSL
RNVHLIGYSLGAHVAGYAGNFVKGTVGRITAITEVVKCEHERAVHLFVDSLVNQDKPSFAFQCTDSNRFKKGICLSCRKN
RCNSIGYNAKKMRNKRNSKMYLKTRAGMPFRVYHYQMKIHVFSYKNMGEIEPTFYVTLYGTNADSQTLPLEIVERIEQNA
TNTFLVYTEEDLGDLLKIQLTWEGASQSWYNLWKEFRSYLSQPRNPGRELNIRRIRVKSGETQRKLTFCTEDPENTSISP
GRELWFRKCRDGWRMKNETSPTVELP*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003545250 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LIPG CLINVAR
OMIM 603684 CLINVAR