RGD:11612282 Rat Genome Database

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Variant: RGD:11612282 -  Homo sapiens

RGD ID: 11612282
RS ID: rs3421
ClinVar ID: CV318035
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105375957  VLDLR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 2,654,048
GRCh38 9 2,654,048
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012741.1:g.37256G>A
NC_000009.12:g.2654048G>A
NC_000009.11:g.2654048G>A
NM_003383.3:c.*180G>A
More... 		06/26/2018 3 prime utr variant benign CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1; CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE; CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1; Cerebellar disorder, nonprogressive, with mental retardation; Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1; Cerebellar hypoplasia, VLDLR associated; Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay; Isolated cerebellar hypoplasia/agenesis; none provided
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:VLDLR
Accession:NM_003383
Location:3UTRS;EXON

Gene Symbol:VLDLR
Accession:NM_001322226
Location:3UTRS;EXON

Gene Symbol:VLDLR
Accession:NM_001322225
Location:3UTRS;EXON

Gene Symbol:VLDLR
Accession:NM_001018056
Location:3UTRS;EXON

Gene Symbol:VLDLR
Accession:XM_047423848
Location:INTRON

Gene Symbol:LOC105375957
Accession:XR_929435
Location:INTRON;NON-CODING

Gene Symbol:LOC105375957
Accession:XR_929436
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000406430 CLINVAR
  RCV001168846 CLINVAR
  RCV001725176 CLINVAR
dbSNP (RS) rs3421 CLINVAR
MedGen C3661900 CLINVAR
  C4551552 CLINVAR
  C5231391 CLINVAR
NCBI Gene VLDLR CLINVAR
OMIM 192977 CLINVAR
  213000 CLINVAR
  224050 CLINVAR
SNOMED CT 16026008 CLINVAR