RGD:151709453 Rat Genome Database

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Variant: RGD:151709453 -  Homo sapiens

RGD ID: 151709453
RS ID: rs764784497
ClinVar ID: CV1462113
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B3GALNT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 235,622,095
GRCh38 1 235,458,787
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152490.5:c.842-1G>A
NG_033219.2:g.50695G>A
NC_000001.11:g.235458787C>T
NC_000001.10:g.235622095C>T
More... 		06/14/2023 splice acceptor variant likely pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A11; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GALNT2-RELATED
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:B3GALNT2
Accession:NM_152490
Location:INTRON

Gene Symbol:B3GALNT2
Accession:NM_001277155
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_006711749
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_017000394
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447005
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447004
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447002
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447003
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:23453667   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001993480 CLINVAR
dbSNP (RS) rs764784497 CLINVAR
MedGen C3554638 CLINVAR
NCBI Gene B3GALNT2 CLINVAR
OMIM 610194 CLINVAR
  615181 CLINVAR