RGD:405163382 Rat Genome Database

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Variant: RGD:405163382 -  Homo sapiens

RGD ID: 405163382
ClinVar ID: CV3017216
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SGCB  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 52,904,376
GRCh38 4 52,038,210
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000232.5:c.33+17G>C
LRG_204:g.5110G>C
NG_172031.1:g.239C>G
NG_008891.1:g.5110G>C
More... 		09/21/2023 intron variant likely benign Beta-sarcoglycan limb-girdle muscular dystrophy; Limb-girdle muscular dystrophy, type 2E; Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SGCB
Accession:NM_000232
Location:INTRON

Gene Symbol:SGCB
Accession:XM_047416074
Location:INTRON

Gene Symbol:SGCB
Accession:XM_047416076
Location:INTRON

Gene Symbol:SGCB
Accession:XM_047416075
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003621373 CLINVAR
MedGen C1858593 CLINVAR
NCBI Gene LOC129992585 CLINVAR
  SGCB CLINVAR
OMIM 600900 CLINVAR
  604286 CLINVAR