Variant (rsID / SNP)

rs118131979

rs118131979 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CALR3. Location: chromosome 19, position 16,593,318. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CALR3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:16593318
Cytoband: 19p13.11
HGVS: NM_145046.5(CALR3):c.861G>A (p.Thr287=)
Allele change: Synonymous_T287T

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.