SGCA sarcoglycan alpha

Information
Symbol
SGCA
Type
protein-coding
Description
sarcoglycan alpha
Entrez Gene ID
6442
Genome
hg19
Position
chr17:48,243,366-48,253,289
Genome
hg38
Position
chr17:50,166,005-50,175,928
MIM
600119 OMIM
HGNC
HGNC:10805 HGNC
Ensembl
ENSG00000108823 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 5 156
Likely pathogenic 4 214
Benign 0 52
Likely benign 0 594
Conflicting classifications of pathogenicity 0 138
Uncertain significance 0 370
Ranking
ClinVar
0
0
298
996
10
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 50DAG
SYNONYM ADL
SYNONYM DAG2
SYNONYM DMDA2
SYNONYM LGMD2D
SYNONYM LGMDR3
SYNONYM SCARMD1
SYNONYM adhalin
MIM 600119 OMIM
HGNC HGNC:10805 HGNC
Ensembl ENSG00000108823 Ensembl
AllianceGenome HGNC:10805
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000504073.2 hg38 chr17 50,166,041 50,175,914 9,874
ENST00000682109.1 hg38 chr17 50,166,041 50,175,437 9,397
ENST00000262018.8 hg38 chr17 50,166,005 50,175,928 9,924
ENST00000344627.10 hg38 chr17 50,166,005 50,175,928 9,924
ENST00000262018.8 hg19 chr17 48,243,366 48,253,289 9,924
ENST00000344627.10 hg19 chr17 48,243,366 48,253,289 9,924
ENST00000682109.1 hg19 chr17 48,243,402 48,252,798 9,397
ENST00000504073.2 hg19 chr17 48,243,402 48,253,275 9,874
Genome browser