10q11.21-q11.23 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 |
|---|---|---|---|---|
| FRMPD2 | FERM and PDZ domain containing 2 | 143162 | ENSG00000170324 | Q68DX3 |
| MAPK8 | mitogen-activated protein kinase 8 | 5599 | ENSG00000107643 | P45983 |
| ARHGAP22 | Rho GTPase activating protein 22 | 58504 | ENSG00000128805 | Q7Z5H3 |
| WDFY4 | WDFY family member 4 | 57705 | ENSG00000128815 | Q6ZS81 |
| LRRC18 | leucine rich repeat containing 18 | 474354 | ENSG00000165383 | Q8N456 |
| VSTM4 | V-set and transmembrane domain containing 4 | 196740 | ENSG00000165633 | Q8IW00 |
| FAM170B | family with sequence similarity 170 member B | 170370 | ENSG00000172538 | A6NMN3 |
| TMEM273 | transmembrane protein 273 | 170371 | ENSG00000204161 | Q5T292 |
| C10orf71 | chromosome 10 open reading frame 71 | 118461 | ENSG00000177354 | Q711Q0 |
| DRGX | dorsal root ganglia homeobox | 644168 | ENSG00000165606 | A6NNA5 |
| ERCC6 | ERCC excision repair 6, chromatin remodeling factor | 2074 | ENSG00000225830 | P0DP91|Q03468 |
| CHAT | choline O-acetyltransferase | 1103 | ENSG00000070748 | P28329 |
| SLC18A3 | solute carrier family 18 member A3 | 6572 | ENSG00000187714 | Q16572 |
| C10orf53 | chromosome 10 open reading frame 53 | 282966 | ENSG00000178645 | Q8N6V4 |
| OGDHL | oxoglutarate dehydrogenase L | 55753 | ENSG00000197444 | Q9ULD0 |
| PARG | poly(ADP-ribose) glycohydrolase | 8505 | ENSG00000227345 | Q86W56 |