RGD:156361119 Rat Genome Database

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Variant: RGD:156361119 -  Homo sapiens

RGD ID: 156361119
ClinVar ID: CV1908665
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B3GAT3  LOC127821277  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 62,384,273
GRCh38 11 62,616,801
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001288723.2:c.619-5G>A
NM_012200.4:c.619-5G>A
NG_031863.1:g.10375G>A
NG_122728.1:g.256C>T
More... 		08/31/2023 intron variant likely benign LARSEN SYNDROME, AUTOSOMAL RECESSIVE; MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS; Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:B3GAT3
Accession:NM_012200
Location:INTRON

Gene Symbol:B3GAT3
Accession:XM_047426751
Location:INTRON

Gene Symbol:B3GAT3
Accession:NM_001288721
Location:INTRON

Gene Symbol:B3GAT3
Accession:NM_001288723
Location:INTRON

Gene Symbol:B3GAT3
Accession:NM_001288722
Location:INTRON

Gene Symbol:B3GAT3
Accession:NR_109991
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002602502 CLINVAR
MedGen C3278404 CLINVAR
NCBI Gene B3GAT3 CLINVAR
OMIM 245600 CLINVAR
  606374 CLINVAR