17p13.3-PAFAH1B1 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr17:2496949-2588909

Disorder Information from Orphanet

1. ORPHA: 531 Deletion syndrome
   OMIM: 247200
   Disease description: No description available.
   World-wide prevalence: Unknown
   Very frequent (99–80%) phenotypic features: Abnormality of upper lip, Epicanthus, High forehead, Anteverted nares, Seizure, Lissencephaly, Growth delay, Cerebral cortical atrophy, EEG abnormality, Short nose
2. ORPHA: 217385 Microduplication syndrome
   OMIM: 613215
   Disease description: No description available.
   World-wide prevalence: <1 / 1 000 000
   Very frequent (99–80%) phenotypic features: Narrow mouth, Hypertelorism, High forehead, Wide nose, Hypotonia, Global developmental delay, Frontal bossing, Short nose

Interactive Pathway Viewer

Gene Information

HGNC	Gene Name	NCBI	Ensembl	UniProt
PAFAH1B1	platelet activating factor acetylhydrolase 1b regulatory subunit 1	5048	ENSG00000007168	P43034