Gene entry
PKD1L1
polycystin 1 like 1, transient receptor potential channel interacting
- Chromosome
- 7
- Cytoband
- 7p12.3
- Variants (rsID)
- 51
PKD1L1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7p12.3). Its official name is “polycystin 1 like 1, transient receptor potential channel interacting”. The reference table lists 51 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs886037834Likely pathogenicsingle nucleotide variantSitus inversus|Heterotaxy, visceral, 8, autosomal
- rs528302390PathogenicDeletionSitus inversus|Heterotaxy, visceral, 8, autosomal
Other listed variants
- rs909062
- rs1453288
- rs1546740
- rs2053985
- rs2053987
- rs2123611
- rs2686817
- rs2686828
- rs4295569
- rs6943832
- rs6945365
- rs6968057
- rs6972918
- rs6979746
- rs7780754
- rs7797545
- rs7798385
- rs7800256
- rs7802908
- rs10245949
- rs10261477
- rs10951929
- rs13228166
- rs17545279
- rs17710983
- rs17711336
- rs34376116
- rs56100904
- rs58025434
- rs72601626
- rs74721110
- rs75043305
- rs75892129
- rs76500161
- rs76766793
- rs76770794
- rs78724031
- rs78941411
- rs79296396
- rs116782098
- rs116849017
- rs116960854
- rs141231234
- rs144442189
- rs147468517
- rs149322509
- rs150679968
- rs200840761
- rs376364135
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.