RGD:11525190 Rat Genome Database

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Variant: RGD:11525190 -  Homo sapiens

RGD ID: 11525190
RS ID: rs879254465
ClinVar ID: CV245474
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR  LOC127890477  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 11,213,461
GRCh38 19 11,102,785
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_274:g.18405T>G
NG_009060.1:g.18405T>G
NC_000019.10:g.11102785T>G
NC_000019.9:g.11213461T>G
More... 		03/25/2016 intron variant likely pathogenic 1-9 / 1 000 000 Fredrickson type IIa hyperlipoproteinemia; Hyper-beta-lipoproteinemia; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF; HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL; Hyperlipoproteinemia type 2; Hyperlipoproteinemia Type II; Hyperlipoproteinemia Type IIa; LDL RECEPTOR DISORDER
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LDLR
Accession:NM_000527
Location:EXON

Gene Symbol:LDLR
Accession:XM_011528010
Location:EXON

Gene Symbol:LDLR
Accession:NM_001195798
Location:EXON

Gene Symbol:LDLR
Accession:NM_001195800
Location:EXON

Gene Symbol:LDLR
Accession:NM_001195803
Location:EXON

Gene Symbol:LDLR
Accession:XM_047438831
Location:EXON

Gene Symbol:LDLR
Accession:NM_001406861
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQGRPGVPPRFLSQRRRQVPGPRSRLRDIHESPSVILGPPGEVPGFRCALWRHLRPHLVLGGALAPPAPIKFTEGPPATL
KASVPYEVETLPQNLPAPPWSAAEIFSHVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFS
CGGRVNRCIPQFWRCDGQVDCDNGSDEQGWRKCGPAFAIEPI*

Gene Symbol:LDLR
Accession:NM_001195799
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11313767  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000238210 CLINVAR
dbSNP (RS) rs879254465 CLINVAR
MedGen C0745103 CLINVAR
NCBI Gene LDLR CLINVAR
OMIM 143890 CLINVAR
  144400 CLINVAR
  606945 CLINVAR
SNOMED CT 397915002 CLINVAR