RGD:8558281 Rat Genome Database

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Variant: RGD:8558281 -  Homo sapiens

RGD ID: 8558281
RS ID: rs755104973
ClinVar ID: CV19818
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLRAP1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 25,880,412
GRCh38 1 25,553,921
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NM_015627.3:c.89-1G>C
NM_015627.2:c.89-1G>C
NC_000001.10:g.25880412G>C
LRG_276t1:c.89-1G>C
More... 		11/22/2021 splice acceptor variant pathogenic 1-9 / 1 000 000 Hypercholesterolemia, autosomal recessive; HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 1; HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LDLRAP1
Accession:XM_024446315
Location:5UTRS;INTRON

Gene Symbol:LDLRAP1
Accession:XM_011541212
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_006710561
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_017000994
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_006710559
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_011541211
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_011541210
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_047417482
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_047417473
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_011541209
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_017000995
Location:INTRON

Gene Symbol:LDLRAP1
Accession:NM_015627
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_006710560
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_047417497
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XR_946603
Location:INTRON;NON-CODING

Gene Symbol:LDLRAP1
Accession:XR_007058621
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:11326085   PMID:12016260   PMID:12464675   PMID:12958143   PMID:15485476   PMID:16199547   PMID:25741868   PMID:28492532   PMID:28965616  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000005045 CLINVAR
  RCV001826420 CLINVAR
dbSNP (RS) rs755104973 CLINVAR
MedGen C0020445 CLINVAR
  C1863512 CLINVAR
NCBI Gene LDLRAP1 CLINVAR
OMIM 603813 CLINVAR
  605747 CLINVAR
OMIM Allele 605747.0007 CLINVAR
SNOMED CT 398036000 CLINVAR