RGD:156164692 Rat Genome Database

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Variant: RGD:156164692 -  Homo sapiens

RGD ID: 156164692
ClinVar ID: CV2135800
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LIPG  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 47,108,803
GRCh38 18 49,582,433
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006033.4:c.1108G>A
NM_001308006.2:c.886G>A
NC_000018.10:g.49582433G>A
NC_000018.9:g.47108803G>A
More... 		04/22/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:LIPG
Accession:NM_006033
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 370
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNSVPLLCFWSLCYCFAAGSPVPFGPEGRLEDKLHKPKATQTEVKPSVRFNLRTSKDPEHEGCYLSVGHSQPLEDCSFN
MTAKTFFIIHGWTMSGIFENWLHKLVSALHTREKDANVVVVDWLPLAHQLYTDAVNNTRVVGHSIARMLDWLQEKDDFSL
GNVHLIGYSLGAHVAGYAGNFVKGTVGRITGLDPAGPMFEGADIHKRLSPDDADFVDVLHTYTRSFGLSIGIQMPVGHID
IYPNGGDFQPGCGLNDVLGSIAYGTITEVVKCEHERAVHLFVDSLVNQDKPSFAFQCTDSNRFKKGICLSCRKNRCNSIG
YNAKKMRNKRNSKMYLKTRAGMPFRVYHYQMKIHVFSYKNMGEIEPTFYITLYGTNADSQTLPLEIVERIEQNATNTFLV
YTEEDLGDLLKIQLTWEGASQSWYNLWKEFRSYLSQPRNPGRELNIRRIRVKSGETQRKLTFCTEDPENTSISPGRELWF
RKCRDGWRMKNETSPTVELP*

Gene Symbol:LIPG
Accession:NM_001308006
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 296
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNSVPLLCFWSLCYCFAAGSPVPFGPEGRLEDKLHKPKATQTEVKPSVRFNLRTSKDPEHEGCYLSVGHSQPLEDCSFN
MTAKTFFIIHGWTMSGIFENWLHKLVSALHTREKDANVVVVDWLPLAHQLYTDAVNNTRVVGHSIARMLDWLQEKDDFSL
GNVHLIGYSLGAHVAGYAGNFVKGTVGRITAITEVVKCEHERAVHLFVDSLVNQDKPSFAFQCTDSNRFKKGICLSCRKN
RCNSIGYNAKKMRNKRNSKMYLKTRAGMPFRVYHYQMKIHVFSYKNMGEIEPTFYITLYGTNADSQTLPLEIVERIEQNA
TNTFLVYTEEDLGDLLKIQLTWEGASQSWYNLWKEFRSYLSQPRNPGRELNIRRIRVKSGETQRKLTFCTEDPENTSISP
GRELWFRKCRDGWRMKNETSPTVELP*

Gene Symbol:LIPG
Accession:XM_047437944
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002983138 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LIPG CLINVAR
OMIM 603684 CLINVAR