SGCG
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SGCG (HGNC:10809) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
sarcoglycan gamma
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DMDA1, MAM, LGMD2C
Alias symbols
SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048
%HI
55.59(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.21(Read more about gnomAD LOEUF score)
Cytoband
13q12.12
Genomic Coordinates
GRCh37/hg19: chr13:23734647-23899301 NCBI Ensembl UCSC
GRCh38/hg38: chr13:23160508-23325162 NCBI Ensembl UCSC
MANE Select Transcript
NM_000231.3 ENST00000218867.4 (Read more about MANE Select)
Function
Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-12660
ClinGen Curation ID:
CCID:007835
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Related Links:
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • autosomal recessive limb-girdle muscular dystrophy type 2C Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000013.10) (NC_000013.11)