RGD:34896232 Rat Genome Database

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Variant: RGD:34896232 -  Homo sapiens

RGD ID: 34896232
RS ID: rs750185173
ClinVar ID: CV917075
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APOA1  APOA1-AS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 116,707,759
GRCh38 11 116,837,043
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318018.2:c.158A>G
LRG_767:g.5580A>G
NG_012021.1:g.5580A>G
NC_000011.10:g.116837043T>C
More...
10/29/2019 5 prime utr variant|missense variant uncertain significance AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:APOA1
Accession:NM_001318021
Location:5UTRS;EXON

Gene Symbol:APOA1
Accession:NM_000039
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDSVSQFEGSALGKQLNLKLLDNWDSVTST
FSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHE
LQEKLSPLGEEMRDRARAHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ
GLLPVLESFKVSFLSALEEYTKKLNTQ*

Gene Symbol:APOA1
Accession:NM_001318018
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDSVSQFEGSALGKQLNLKLLDNWDSVTST
FSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHE
LQEKLSPLGEEMRDRARAHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ
GLLPVLESFKVSFLSALEEYTKKLNTQ*

Gene Symbol:APOA1
Accession:NM_001318017
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDSVSQFEGSALGKQLNLKLLDNWDSVTST
FSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHE
LQEKLSPLGEEMRDRARAHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ
GLLPVLESFKVSFLSALEEYTKKLNTQ*

Gene Symbol:APOA1
Accession:XM_047426866
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDSVSQFEGSALGKQLNLKLLDNWDSVTST
FSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHE
LQEKLSPLGEEMRDRARAHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ
GLLPVLESFKVSFLSALEEYTKKLNTQ*

Gene Symbol:APOA1-AS
Accession:NR_126362
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001193576 CLINVAR
  RCV001876253 CLINVAR
  RCV002402560 CLINVAR
  RCV003405374 CLINVAR
dbSNP (RS) rs750185173 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene APOA1 CLINVAR
  APOA1-AS CLINVAR
OMIM 107680 CLINVAR
  620112 CLINVAR