RGD:28882544 Rat Genome Database

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Variant: RGD:28882544 -  Homo sapiens

RGD ID: 28882544
RS ID: rs1054805961
ClinVar ID: CV901765
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VLDLR  VLDLR-AS1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 2,622,142
GRCh38 9 2,622,142
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001018056.3:c.-48G>C
NM_001322225.2:c.-48G>C
NM_001322226.2:c.-48G>C
NM_003383.5:c.-48G>C
More... 		01/13/2018 5 prime utr variant uncertain significance 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

Variant Details
Variant Transcripts
Gene Symbol:VLDLR
Accession:NM_001322225
Location:5UTRS;EXON

Gene Symbol:VLDLR
Accession:NM_001018056
Location:5UTRS;EXON

Gene Symbol:VLDLR
Accession:NM_003383
Location:5UTRS;EXON

Gene Symbol:VLDLR
Accession:XM_047423848
Location:5UTRS;EXON

Gene Symbol:VLDLR
Accession:NM_001322226
Location:5UTRS;EXON

Gene Symbol:VLDLR-AS1
Accession:NR_015375
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001167936 CLINVAR
dbSNP (RS) rs1054805961 CLINVAR
MedGen C4551552 CLINVAR
NCBI Gene VLDLR CLINVAR
  VLDLR-AS1 CLINVAR
OMIM 192977 CLINVAR
  224050 CLINVAR