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Variant (rsID / SNP)

rs142951029

CALR3

rs142951029 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CALR3. Location: chromosome 19, position 16,601,330. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CALR3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:16601330
Cytoband
19p13.11
HGVS
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg)
Allele change
Missense_K82R

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 19|Arrhythmogenic right ventricular cardiomyopathy|Hypertrophic cardiomyopathy

Public references

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