RGD:28877273 Rat Genome Database

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Variant: RGD:28877273 -  Homo sapiens

RGD ID: 28877273
RS ID: rs1046127430
ClinVar ID: CV890704
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SGCB  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 52,887,309
GRCh38 4 52,021,143
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_053164.1:g.4169A>G
NC_000004.11:g.52887309T>C
NM_000232.4:c.*2814A>G
LRG_204t1:c.*2814A>G
More... 		01/12/2018 3 prime utr variant uncertain significance Beta-sarcoglycanopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SGCB
Accession:NM_000232
Location:3UTRS;EXON

Gene Symbol:SGCB
Accession:XM_047416074
Location:3UTRS;EXON

Gene Symbol:SGCB
Accession:XM_047416076
Location:3UTRS;EXON

Gene Symbol:SGCB
Accession:XM_047416075
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001148289 CLINVAR
dbSNP (RS) rs1046127430 CLINVAR
MedGen C2930900 CLINVAR
NCBI Gene SGCB CLINVAR
OMIM 600900 CLINVAR