Gene entry
PITPNM3
PITPNM family member 3
- Chromosome
- 17
- Cytoband
- 17p13.2-p13.1
- Variants (rsID)
- 45
PITPNM3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17p13.2-p13.1). Its official name is “PITPNM family member 3”. The reference table lists 45 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs28493751Benignsingle nucleotide variantCone-rod dystrophy 5
- rs3169862Benignsingle nucleotide variantCone-rod dystrophy 5
- rs3809835Benignsingle nucleotide variantCone-rod dystrophy 5
- rs139119218Conflicting interpretationssingle nucleotide variantCone-rod dystrophy 5|Retinitis pigmentosa
- rs148451236Conflicting interpretationssingle nucleotide variantCone-rod dystrophy 5
- rs76024428Conflicting interpretationssingle nucleotide variantCone-rod dystrophy 5|Retinitis pigmentosa
Other listed variants
- rs165105
- rs356037
- rs356048
- rs356049
- rs867870
- rs907941
- rs952849
- rs2007492
- rs4128287
- rs6502958
- rs7208709
- rs7350930
- rs9905473
- rs9909301
- rs9913974
- rs10852883
- rs11078633
- rs11078638
- rs11653722
- rs12452411
- rs12601618
- rs12939585
- rs16942699
- rs34279026
- rs55934326
- rs56288601
- rs72830335
- rs73352216
- rs73975615
- rs74381720
- rs75662989
- rs76156693
- rs76619855
- rs117376781
- rs117642054
- rs117864641
- rs118100732
- rs145057485
- rs149585484
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.