RGD:13532019 Rat Genome Database

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Variant: RGD:13532019 -  Homo sapiens

RGD ID: 13532019
RS ID: rs757347274
ClinVar ID: CV511249
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B3GALNT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 235,634,163
GRCh38 1 235,470,849
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.10:g.235634163C>T
NM_152490.2:c.762+1G>A
NC_000001.11:g.235470849C>T
NG_033219.2:g.38633G>A
More... 		12/13/2018 splice donor 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; none provided; 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:XM_047447005
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447002
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447004
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447003
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_006711749
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_017000394
Location:INTRON

Gene Symbol:B3GALNT2
Accession:NM_001277155
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:23453667   PMID:25741868   PMID:28492532   PMID:31130284  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000623844 CLINVAR
  RCV000695954 CLINVAR
  RCV001568948 CLINVAR
dbSNP (RS) rs757347274 CLINVAR
MedGen C0950123 CLINVAR
  C3554638 CLINVAR
  C3661900 CLINVAR
NCBI Gene B3GALNT2 CLINVAR
OMIM 610194 CLINVAR
  615181 CLINVAR