Variant (rsID / SNP)

rs144022614

rs144022614 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JPH2. Location: chromosome 20, position 42,788,571. Clinical significance in the table: Likely benign.

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Reference-table entries

JPH2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:42788571
Cytoband: 20q13.12
HGVS: NM_020433.5(JPH2):c.856A>G (p.Thr286Ala)
Allele change: Missense_T286A

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Supraventricular tachycardia

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.