16p12.2 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr16:21950135-22431889

Disorder Information from Orphanet

1. ORPHA: 485405 Triplication syndrome
   OMIM:
   Disease description: No description available.
   World-wide prevalence: <1 / 1 000 000
   Very frequent (99–80%) phenotypic features: No phenotypic features available.

Interactive Pathway Viewer

Gene Information

HGNC	Gene Name	NCBI	Ensembl	UniProt
UQCRC2	ubiquinol-cytochrome c reductase core protein 2	7385	ENSG00000140740	P22695
PDZD9	PDZ domain containing 9	255762	ENSG00000155714	Q8IXQ8
MOSMO	modulator of smoothened	730094	ENSG00000185716	Q8NHV5
VWA3A	von Willebrand factor A domain containing 3A	146177	ENSG00000175267	A6NCI4
SDR42E2	short chain dehydrogenase/reductase family 42E, member 2	100288072	ENSG00000183921	A6NKP2
EEF2K	eukaryotic elongation factor 2 kinase	29904	ENSG00000103319	O00418
POLR3E	RNA polymerase III subunit E	55718	ENSG00000058600	Q9NVU0
CDR2	cerebellar degeneration related protein 2	1039	ENSG00000140743	Q01850