RGD:28883270 Rat Genome Database

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Variant: RGD:28883270 -  Homo sapiens

RGD ID: 28883270
RS ID: rs543277819
ClinVar ID: CV863568
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSPG2  LDLRAD2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 22,149,711
GRCh38 1 21,823,218
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016740.1:g.119040G>A
NC_000001.11:g.21823218C>T
NC_000001.10:g.22149711C>T
NM_005529.5:c.*98G>A
More... 		01/13/2018 3 prime utr variant uncertain significance Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type; Dyssegmental dwarfism Silverman-Handmaker type; Dyssegmental Dysplasia; Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HSPG2
Accession:NM_005529
Location:3UTRS;EXON

Gene Symbol:HSPG2
Accession:XM_011541318
Location:3UTRS;EXON

Gene Symbol:HSPG2
Accession:XM_017001121
Location:3UTRS;EXON

Gene Symbol:HSPG2
Accession:XM_047419091
Location:3UTRS;EXON

Gene Symbol:HSPG2
Accession:XM_047419090
Location:3UTRS;EXON

Gene Symbol:HSPG2
Accession:XM_017001120
Location:3UTRS;EXON

Gene Symbol:LDLRAD2
Accession:NM_001013693
Location:3UTRS;EXON

Gene Symbol:HSPG2
Accession:NM_001291860
Location:3UTRS;EXON

Gene Symbol:HSPG2
Accession:XM_047419080
Location:3UTRS;EXON

Gene Symbol:HSPG2
Accession:XM_017001122
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001097451 CLINVAR
  RCV001097452 CLINVAR
dbSNP (RS) rs543277819 CLINVAR
MedGen C0036391 CLINVAR
  C1857100 CLINVAR
NCBI Gene HSPG2 CLINVAR
  LDLRAD2 CLINVAR
OMIM 142461 CLINVAR
  224410 CLINVAR
  255800 CLINVAR
SNOMED CT 93132001 CLINVAR