Variant (rsID / SNP)

rs116986535

rs116986535 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JPH2. Location: chromosome 20, position 42,745,033. Clinical significance in the table: Benign.

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Reference-table entries

JPH2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:42745033
Cytoband: 20q13.12
HGVS: NM_020433.5(JPH2):c.1289-7C>T
Allele change: Silent

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 17

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.