Variant (rsID / SNP)

rs12459238

rs12459238 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CALR3. Location: chromosome 19, position 16,593,359. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CALR3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:16593359
Cytoband: 19p13.11
HGVS: NM_145046.5(CALR3):c.820G>A (p.Val274Ile)
Allele change: Missense_V274I

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 19|Cardiovascular phenotype

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.