RGD:10403557 Rat Genome Database

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Variant: RGD:10403557 -  Homo sapiens

RGD ID: 10403557
RS ID: rs770269674
ClinVar ID: CV207707
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VLDLR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 2,635,452
GRCh38 9 2,635,452
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.18660G>A
NC_000009.12:g.2635452G>A
NC_000009.11:g.2635452G>A
NM_003383.3:c.83-1G>A
More... 		12/29/2023 splice acceptor variant pathogenic|likely pathogenic 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; none provided

Variant Details
Variant Transcripts
Gene Symbol:VLDLR
Accession:XM_047423848
Location:INTRON

Gene Symbol:VLDLR
Accession:NM_003383
Location:INTRON

Gene Symbol:VLDLR
Accession:NM_001322226
Location:INTRON

Gene Symbol:VLDLR
Accession:NM_001322225
Location:INTRON

Gene Symbol:VLDLR
Accession:NM_001018056
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:18043714   PMID:18326629   PMID:22532556   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002051690 CLINVAR
  RCV003678982 CLINVAR
dbSNP (RS) rs770269674 CLINVAR
MedGen C3661900 CLINVAR
  C4551552 CLINVAR
NCBI Gene VLDLR CLINVAR
OMIM 192977 CLINVAR
  224050 CLINVAR