Gene entry
PAFAH1B1
platelet activating factor acetylhydrolase 1b regulatory subunit 1
- Chromosome
- 17
- Cytoband
- 17p13.3
- Variants (rsID)
- 22
PAFAH1B1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17p13.3). Its official name is “platelet activating factor acetylhydrolase 1b regulatory subunit 1”. The reference table lists 22 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs150380620Benignsingle nucleotide variant
- rs140936904Conflicting interpretationssingle nucleotide variant
- rs144659773Conflicting interpretationssingle nucleotide variant
- rs587784250Likely pathogenicsingle nucleotide variantLissencephaly due to LIS1 mutation
- rs113994202Pathogenicsingle nucleotide variantLissencephaly due to LIS1 mutation|Inborn genetic diseases|Lissencephaly
- rs113994203Pathogenicsingle nucleotide variantLissencephaly due to LIS1 mutation
- rs121434483Pathogenicsingle nucleotide variantLissencephaly due to LIS1 mutation
- rs121434487Pathogenicsingle nucleotide variantLissencephaly due to LIS1 mutation
- rs587784258Pathogenicsingle nucleotide variantLissencephaly due to LIS1 mutation
- rs797045861PathogenicDuplicationLissencephaly due to LIS1 mutation
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.