RGD:9481105 Rat Genome Database

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Variant: RGD:9481105 -  Homo sapiens

RGD ID: 9481105
RS ID: rs587777640
ClinVar ID: CV153748
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPIHBP1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 144,296,972
GRCh38 8 143,215,097
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000008.11:g.143215097G>T
NC_000008.10:g.144296972G>T
NG_034256.1:g.6905G>T
NP_835466.2:p.Cys89Phe
More... 		08/22/2014 missense variant pathogenic childhood 1-9 / 1 000 000 Hyperlipoproteinemia, type ID
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GPIHBP1
Accession:NM_001301772
Location:EXON
Amino Acid Prediction: C to F (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKALGAVLLALLLFGRPGRGQTQQEEEEEDEDHGPDDYDEEDEDEVEEEETNRLPGGRSRVLLRCYTCKSLPRDERCNLT
QNCSHGQTFTTLIAHGNTESGLLTTHSTWCTDSCQPITKTVEGTQ*

Gene Symbol:GPIHBP1
Accession:NM_178172
Location:EXON
Amino Acid Prediction: C to F (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKALGAVLLALLLFGRPGRGQTQQEEEEEDEDHGPDDYDEEDEDEVEEEETNRLPGGRSRVLLRCYTCKSLPRDERCNLT
QNCSHGQTFTTLIAHGNTESGLLTTHSTWCTDSCQPITKTVEGTQVTMTCCQSSLCNVPPWQSSRVQDPTGKGAGGPRGS
SETVGAALLLNLLAGLGAMGARRP*
Variant Samples
Additional References at PubMed
PMID:21816778  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000133526 CLINVAR
dbSNP (RS) rs587777640 CLINVAR
MedGen C4014767 CLINVAR
NCBI Gene GPIHBP1 CLINVAR
OMIM 612757 CLINVAR
  615947 CLINVAR
OMIM Allele 612757.0006 CLINVAR