Variant (rsID / SNP)

rs3810510

rs3810510 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JPH2. Location: chromosome 20, position 42,747,247. 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: 20:42747247
Cytoband: 20q13.12
HGVS: NM_020433.5(JPH2):c.1186G>A (p.Ala396Thr)
Allele change: Missense_A396T

Associated conditions / phenotypes

Cardiovascular phenotype|Long QT syndrome|Hypertrophic cardiomyopathy 17|Hypertrophic cardiomyopathy|Cardiomyopathy, dilated, 2E

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.