RGD:405054224 Rat Genome Database

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Variant: RGD:405054224 -  Homo sapiens

RGD ID: 405054224
ClinVar ID: CV3151022
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LIPG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 47,107,895
GRCh38 18 49,581,525
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.682C>T
NM_006033.4:c.904C>T
NC_000018.10:g.49581525C>T
NC_000018.9:g.47107895C>T
More... 		09/10/2023 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:LIPG
Accession:NM_006033
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNSVPLLCFWSLCYCFAAGSPVPFGPEGRLEDKLHKPKATQTEVKPSVRFNLRTSKDPEHEGCYLSVGHSQPLEDCSFN
MTAKTFFIIHGWTMSGIFENWLHKLVSALHTREKDANVVVVDWLPLAHQLYTDAVNNTRVVGHSIARMLDWLQEKDDFSL
GNVHLIGYSLGAHVAGYAGNFVKGTVGRITGLDPAGPMFEGADIHKRLSPDDADFVDVLHTYTRSFGLSIGIQMPVGHID
IYPNGGDFQPGCGLNDVLGSIAYGTITEVVKCEHERAVHLFVDSLVNQDKPSFAFQCTDSNCFKKGICLSCRKNRCNSIG
YNAKKMRNKRNSKMYLKTRAGMPFRVYHYQMKIHVFSYKNMGEIEPTFYVTLYGTNADSQTLPLEIVERIEQNATNTFLV
YTEEDLGDLLKIQLTWEGASQSWYNLWKEFRSYLSQPRNPGRELNIRRIRVKSGETQRKLTFCTEDPENTSISPGRELWF
RKCRDGWRMKNETSPTVELP*

Gene Symbol:LIPG
Accession:NM_001308006
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 228
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNSVPLLCFWSLCYCFAAGSPVPFGPEGRLEDKLHKPKATQTEVKPSVRFNLRTSKDPEHEGCYLSVGHSQPLEDCSFN
MTAKTFFIIHGWTMSGIFENWLHKLVSALHTREKDANVVVVDWLPLAHQLYTDAVNNTRVVGHSIARMLDWLQEKDDFSL
GNVHLIGYSLGAHVAGYAGNFVKGTVGRITAITEVVKCEHERAVHLFVDSLVNQDKPSFAFQCTDSNCFKKGICLSCRKN
RCNSIGYNAKKMRNKRNSKMYLKTRAGMPFRVYHYQMKIHVFSYKNMGEIEPTFYVTLYGTNADSQTLPLEIVERIEQNA
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 RCV003849626 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LIPG CLINVAR
OMIM 603684 CLINVAR