17p13.3-PAFAH1B1 Copy Number Variation - CNVPathwayAtlas

17p13.3-PAFAH1B1 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr17:2496949-2588909

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Disorder Information from Orphanet

  1. ORPHA: 531 Deletion syndrome
    247200
    Disease definition: Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.
    World-wide prevalence: Unknown
    Very frequent (99–80%) phenotypic features: No phenotypic features available.
  2. ORPHA: 217385 Microduplication syndrome
    613215
    Disease definition: 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.
    World-wide prevalence: <1 / 1 000 000
    Very frequent (99–80%) phenotypic features: No phenotypic features available.

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Gene Information

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