Gene entry
JPH2
junctophilin 2
- Chromosome
- 20
- Cytoband
- 20q13.12
- Variants (rsID)
- 37
JPH2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20q13.12). Its official name is “junctophilin 2”. The reference table lists 37 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs116986535Benignsingle nucleotide variantHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 17
- rs3810510Benignsingle nucleotide variantCardiovascular phenotype|Long QT syndrome|Hypertrophic cardiomyopathy 17|Hypertrophic cardiomyopathy|Cardiomyopathy, dilated, 2E
- rs587782951Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy
- rs144022614Likely benignsingle nucleotide variantHypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Supraventricular tachycardia
Other listed variants
- rs738498
- rs761207
- rs1055716
- rs2143494
- rs2425627
- rs2867795
- rs4810411
- rs6017273
- rs6031406
- rs6031407
- rs6031410
- rs6031433
- rs6073358
- rs6073359
- rs6073360
- rs6093938
- rs6103662
- rs11696553
- rs11905877
- rs12329575
- rs17755028
- rs35098395
- rs35878236
- rs45451396
- rs56404395
- rs62204500
- rs62204504
- rs77645433
- rs78014226
- rs111810253
- rs117009635
- rs117720283
- rs561708803
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.