Variant (rsID / SNP)

rs182376945

rs182376945 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CALR3. Location: chromosome 19, position 16,601,360. 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: 19:16601360
Cytoband: 19p13.11
HGVS: NM_145046.5(CALR3):c.215G>A (p.Gly72Asp)
Allele change: Missense_G72D

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 19

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.