1q21.1-q21.2 Copy Number Variation
Description
The distal 1q21.1-q21.2 copy number variation syndrome can result in the loss or duplication of up to 7 protein-coding genes, leading to widespread effects on human development.
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 |
|---|---|---|---|---|
| PRKAB2 | protein kinase AMP-activated non-catalytic subunit beta 2 | 5565 | ENSG00000131791 | O43741 |
| FMO5 | flavin containing dimethylaniline monoxygenase 5 | 2330 | ENSG00000131781 | P49326 |
| CHD1L | chromodomain helicase DNA binding protein 1 like | 9557 | ENSG00000131778 | Q86WJ1 |
| BCL9 | BCL9 transcription coactivator | 607 | ENSG00000116128 | O00512 |
| ACP6 | acid phosphatase 6, lysophosphatidic | 51205 | ENSG00000162836 | Q9NPH0 |
| GJA5 | gap junction protein alpha 5 | 2702 | ENSG00000265107 | P36382 |
| GJA8 | gap junction protein alpha 8 | 2703 | ENSG00000121634 | P48165 |