Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs587782951

JPH2

rs587782951 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JPH2. Location: chromosome 20, position 42,788,945. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

JPH2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:42788945
Cytoband
20q13.12
HGVS
NM_020433.5(JPH2):c.482C>A (p.Thr161Lys)
Allele change
Missense_T161K

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy

Public references

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