RGD:11602504 Rat Genome Database

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Variant: RGD:11602504 -  Homo sapiens

RGD ID: 11602504
RS ID: rs4148947
ClinVar ID: CV322236
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHST3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 73,770,117
GRCh38 10 72,010,359
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012635.1:g.50998T>C
NC_000010.11:g.72010359T>C
NC_000010.10:g.73770117T>C
NM_004273.5:c.*1888T>C
More... 		06/14/2016 3 prime utr variant benign infancy <1 / 1 000 000 Bilateral dislocation of the knees, pes cavus, cylindrically shaped fingers and characteristic facies; Humero-spinal dysostosis with congenital heart disease; Kozlowski Celermajer Tink syndrome; Larsen syndrome, dominant type; Primary bone dysplasia; SED congenita; Spondyloepiphyseal dysplasia, congenital type
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CHST3
Accession:XM_006718075
Location:3UTRS;EXON

Gene Symbol:CHST3
Accession:XM_047426022
Location:3UTRS;EXON

Gene Symbol:CHST3
Accession:NM_004273
Location:3UTRS;EXON

Gene Symbol:CHST3
Accession:XM_011540369
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000291634 CLINVAR
  RCV000302226 CLINVAR
  RCV000346599 CLINVAR
  RCV000394400 CLINVAR
dbSNP (RS) rs4148947 CLINVAR
MedGen C0175778 CLINVAR
  C0410528 CLINVAR
  C1837657 CLINVAR
  C2745959 CLINVAR
NCBI Gene CHST3 CLINVAR
OMIM 143095 CLINVAR
  150250 CLINVAR
  183900 CLINVAR
  603799 CLINVAR
SNOMED CT 105986008 CLINVAR
  63387002 CLINVAR