RGD:156297066 Rat Genome Database

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Variant: RGD:156297066 -  Homo sapiens

RGD ID: 156297066
ClinVar ID: CV2005416
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B3GALNT2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 235,643,365
GRCh38 1 235,480,049
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.651+5A>G
NM_001277155.3:c.774+5A>G
NG_033219.3:g.29403A>G
NG_033219.2:g.29433A>G
More... 		03/24/2022 intron variant uncertain significance 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_001277155
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447003
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_006711749
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447005
Location:INTRON

Gene Symbol:B3GALNT2
Accession:NM_152490
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_017000394
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447004
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447002
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002670994 CLINVAR
MedGen C3554638 CLINVAR
NCBI Gene B3GALNT2 CLINVAR
OMIM 610194 CLINVAR
  615181 CLINVAR