SGCB sarcoglycan beta

Information
Symbol
SGCB
Type
protein-coding
Description
sarcoglycan beta
Entrez Gene ID
6443
Genome
hg19
Position
chr4:52,886,872-52,904,465
Genome
hg38
Position
chr4:52,020,706-52,038,299
MIM
600900 OMIM
HGNC
HGNC:10806 HGNC
Ensembl
ENSG00000163069 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 138
Likely pathogenic 0 116
Benign 0 28
Likely benign 0 396
Conflicting classifications of pathogenicity 0 104
Uncertain significance 0 404
Ranking
ClinVar
0
0
182
834
8
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM A3b
SYNONYM LGMD2E
SYNONYM LGMDR4
SYNONYM SGC
MIM 600900 OMIM
HGNC HGNC:10806 HGNC
Ensembl ENSG00000163069 Ensembl
AllianceGenome HGNC:10806
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000381431.10 hg38 chr4 52,020,706 52,038,299 17,594
ENST00000381431.10 hg19 chr4 52,886,872 52,904,465 17,594
Genome browser