RGD:151811842 Rat Genome Database

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Variant: RGD:151811842 -  Homo sapiens

RGD ID: 151811842
RS ID: rs763641118
ClinVar ID: CV1422785
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B3GALNT2  LOC127272065  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 235,667,552
GRCh38 1 235,504,252
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001277155.3:c.1A>G
NM_152490.5:c.1A>G
NG_033219.2:g.5230A>G
NC_000001.11:g.235504252T>C
More... 		05/30/2022 initiatior codon variant|initiator_codon_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; 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:EXON

Gene Symbol:B3GALNT2
Accession:XM_047447005
Location:EXON

Gene Symbol:B3GALNT2
Accession:XM_006711749
Location:EXON

Gene Symbol:B3GALNT2
Accession:XM_047447003
Location:EXON

Gene Symbol:B3GALNT2
Accession:XM_047447002
Location:EXON

Gene Symbol:B3GALNT2
Accession:NM_001277155
Location:EXON

Gene Symbol:B3GALNT2
Accession:XM_017000394
Location:EXON

Gene Symbol:B3GALNT2
Accession:XM_047447004
Location:EXON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001943780 CLINVAR
  RCV003416606 CLINVAR
dbSNP (RS) rs763641118 CLINVAR
MedGen C3554638 CLINVAR
  C3661900 CLINVAR
NCBI Gene B3GALNT2 CLINVAR
OMIM 610194 CLINVAR
  615181 CLINVAR