SGCD
sarcoglycan delta
Summary
The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]
Known Variants622 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11134474 | 5:155,202,528 | A/G | intergenic variant | — |
| rs1432723 | 5:155,302,582 | G/A | intron variant | — |
| rs13358188 | 5:155,325,029 | A/G | intron variant | — |
| rs2163746 | 5:155,345,221 | A/C | — | — |
| rs2008129 | 5:155,345,295 | G/A | intron variant | — |
| rs244960 | 5:155,351,261 | T/G | — | — |
| rs17053082 | 5:155,394,230 | C/T | intron variant | — |
| rs190501715 | 5:155,407,342 | T/A | intron variant | — |
| rs4704970 | 5:155,500,992 | G/A | intron variant | — |
| rs190555844 | 5:155,502,389 | A/G | intron variant | — |
| rs183172007 | 5:155,544,886 | A/G | — | benign |
| rs3097862 | 5:155,551,741 | G/A | intron variant | — |
| rs1835919 | 5:155,613,491 | A/G | intron variant | — |
| rs249878 | 5:155,645,251 | G/C | — | — |
| rs573482767 | 5:155,698,705 | G/A | — | — |
| rs150161916 | 5:155,726,985 | A/G | intron variant | — |
| rs114128937 | 5:155,753,749 | A/C | — | benign |
| rs7724969 | 5:155,753,874 | A/T | — | conflicting classifications of pathogenicity |
| rs192662989 | 5:155,753,882 | G/A | — | likely benign |
| rs531296131 | 5:155,753,908 | G/T | — | uncertain significance |
| rs915480419 | 5:155,753,911 | A/G | — | benign |
| rs7717393 | 5:155,753,914 | C/G | — | conflicting classifications of pathogenicity |
| rs727503419 | 5:155,753,934 | T/C | — | conflicting classifications of pathogenicity |
| rs1471586918 | 5:155,753,951 | T/G | — | uncertain significance |
| rs7725121 | 5:155,753,983 | A/T | — | likely benign |
| rs1767843316 | 5:155,754,070 | C/G | — | benign |
| rs77808502 | 5:155,754,107 | A/G | — | likely benign |
| rs886060284 | 5:155,754,151 | C/T | — | conflicting classifications of pathogenicity |
| rs13170573 | 5:155,754,192 | C/G | — | benign |
| rs1057522676 | 5:155,754,206 | G/T | — | likely benign |
| rs375477247 | 5:155,754,227 | G/A | — | conflicting classifications of pathogenicity |
| rs727503420 | 5:155,754,242 | G/T | — | uncertain significance |
| rs959438136 | 5:155,754,243 | G/A | — | uncertain significance |
| rs1300537737 | 5:155,754,244 | T/A | — | uncertain significance |
| rs184722381 | 5:155,754,253 | G/A | — | conflicting classifications of pathogenicity |
| rs11744154 | 5:155,756,299 | A/G | — | benign |
| rs11740347 | 5:155,756,414 | G/A | — | benign |
| rs767016855 | 5:155,756,543 | G/A | — | uncertain significance |
| rs369889635 | 5:155,756,546 | A/T | — | not provided |
| rs374043017 | 5:155,756,557 | G/A | — | conflicting classifications of pathogenicity |
| rs1440354794 | 5:155,756,574 | G/T | — | likely benign |
| rs756367674 | 5:155,756,587 | A/G | — | uncertain significance |
| rs777787493 | 5:155,756,590 | G/A | — | uncertain significance |
| rs753979573 | 5:155,756,591 | T/A | — | uncertain significance |
| rs573109924 | 5:155,756,592 | G/C | — | uncertain significance |
| rs1000990823 | 5:155,756,594 | G/A | — | uncertain significance |
| rs1561622931 | 5:155,756,596 | A/G | — | conflicting classifications of pathogenicity |
| rs2481560485 | 5:155,756,597 | A/G | — | likely benign |
| rs374790317 | 5:155,756,600 | C/T | — | likely benign |
| rs768506031 | 5:155,756,602 | C/T | — | likely benign |
| rs538229806 | 5:155,756,603 | G/A | — | conflicting classifications of pathogenicity |
| rs769519400 | 5:155,756,604 | G/A | — | likely benign |
| rs2481560612 | 5:155,756,606 | A/G | — | likely benign |
| rs182715924 | 5:155,756,608 | C/T | — | likely benign |
| rs187786098 | 5:155,756,609 | G/T | — | likely benign |
| rs149323169 | 5:155,756,741 | C/T | — | likely benign |
| rs10447212 | 5:155,756,837 | T/C | — | benign |
| rs142576328 | 5:155,756,874 | A/G | — | benign |
| rs4704792 | 5:155,757,946 | A/C | — | — |
| rs4705007 | 5:155,762,628 | G/A | intron variant | — |
| rs76348482 | 5:155,771,330 | A/C | — | likely benign |
| rs8180473 | 5:155,771,356 | G/A | — | benign |
| rs79949502 | 5:155,771,378 | G/A | — | likely benign |
| rs200386436 | 5:155,771,458 | G/T | — | likely benign |
| rs2481652010 | 5:155,771,485 | C/T | — | likely benign |
| rs761148697 | 5:155,771,486 | T/A | — | likely benign |
| rs727504580 | 5:155,771,487 | C/T | — | conflicting classifications of pathogenicity |
| rs754124727 | 5:155,771,488 | G/T | — | likely benign |
| rs1161530606 | 5:155,771,492 | A/G | — | likely benign |
| rs1554094927 | 5:155,771,498 | G/T | — | likely pathogenic |
| rs1554094928 | 5:155,771,503 | C/T | — | uncertain significance |
| rs2481652139 | 5:155,771,504 | T/C | — | likely benign |
| rs1768838504 | 5:155,771,505 | C/T | — | pathogenic |
| rs549319429 | 5:155,771,510 | G/C | — | likely benign |
| rs1561633494 | 5:155,771,514 | T/C | — | uncertain significance |
| rs1554094932 | 5:155,771,517 | A/G | — | uncertain significance |
| rs1320640424 | 5:155,771,520 | C/T | — | uncertain significance |
| rs2127716448 | 5:155,771,523 | C/T | — | uncertain significance |
| rs566181541 | 5:155,771,526 | C/T | — | uncertain significance |
| rs752548592 | 5:155,771,527 | G/A | — | uncertain significance |
| rs756007116 | 5:155,771,528 | G/A | — | likely benign |
| rs1449665448 | 5:155,771,530 | G/A | — | uncertain significance |
| rs1768840932 | 5:155,771,533 | C/T | — | uncertain significance |
| rs903232864 | 5:155,771,535 | A/G | — | uncertain significance |
| rs1768841493 | 5:155,771,536 | T/C | — | uncertain significance |
| rs1281906026 | 5:155,771,537 | G/T | — | uncertain significance |
| rs727505092 | 5:155,771,540 | T/A | — | conflicting classifications of pathogenicity |
| rs2481652598 | 5:155,771,542 | G/A | — | uncertain significance |
| rs2481652623 | 5:155,771,543 | C/T | — | likely benign |
| rs2127716489 | 5:155,771,546 | T/C | — | likely benign |
| rs756970013 | 5:155,771,549 | G/A | — | conflicting classifications of pathogenicity |
| rs778664534 | 5:155,771,551 | G/C | — | uncertain significance |
| rs2481652749 | 5:155,771,552 | G/T | — | likely benign |
| rs900010728 | 5:155,771,561 | A/G | — | likely benign |
| rs1768843843 | 5:155,771,562 | T/C | — | uncertain significance |
| rs397517923 | 5:155,771,564 | C/A | stop gained | pathogenic |
| rs370189224 | 5:155,771,572 | G/A | — | uncertain significance |
| rs373824540 | 5:155,771,574 | A/T | — | uncertain significance |
| rs1801193 | 5:155,771,579 | C/T | — | benign |
| rs773399590 | 5:155,771,580 | G/A | — | uncertain significance |
Showing 100 of 622 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.