13q12.12 Copy Number Variation
Description
Genomic location GRCh37/hg19
Disorder Information from Orphanet
This CNV is not yet linked to an OrphaCode.
Interactive Pathway Viewer
Gene Information
| HGNC | Gene Name | NCBI | Ensembl | UniProt |
|---|---|---|---|---|
| SGCG | sarcoglycan gamma | 6445 | ENSG00000102683 | Q13326 |
| SACS | sacsin molecular chaperone | 26278 | ENSG00000151835 | Q9NZJ4 |
| TNFRSF19 | TNF receptor superfamily member 19 | 55504 | ENSG00000127863 | Q9NS68 |
| MIPEP | mitochondrial intermediate peptidase | 4285 | ENSG00000027001 | Q99797 |
| C1QTNF9B | C1q and TNF related 9B | 387911 | ENSG00000205863 | B2RNN3 |
| SPATA13 | spermatogenesis associated 13 | 221178 | ENSG00000182957 | Q96N96 |
| C1QTNF9 | C1q and TNF related 9 | 338872 | ENSG00000240654 | P0C862 |