PNPLA6 gene homepage

General information
Gene symbol PNPLA6
Gene name patatin-like phospholipase domain containing 6
Chromosome 19
Chromosomal band p13.2
Imprinted Unknown
Genomic reference NG_013374.1
Transcript reference NM_006702.4
Exon/intron information NM_006702.4 exon/intron table
Associated with diseases LNMS, OMCS, SPG-39, Boucher Neuhauser syndrome
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 114
Unique public DNA variants reported 89
Individuals with public variants 34
Hidden variants 4
Download all this gene's data Download all data
Date created May 03, 2013
Date last updated June 24, 2020
Version PNPLA6:200624

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_006702.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/PNPLA6
HGNC 16268
Entrez Gene 10908
PubMed articles PNPLA6
OMIM - Gene 603197
OMIM - Diseases LNMS (Laurence-Moon syndrome (LNMS))
OMCS (Oliver-McFarlane syndrome (OMCS))
SPG-39 (paraplegia, spastic, type 39 (SPG-39))
Boucher Neuhauser syndrome
HGMD PNPLA6
GeneCards PNPLA6
GeneTests PNPLA6


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016453 19 transcript variant 2 NM_006702.4 NP_006693.3 114


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