Variant (rsID / SNP)

rs730880138

rs730880138 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,355,559. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYBPC3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:47355559
Cytoband: 11p11.2
HGVS: NM_000256.3(MYBPC3):c.2908C>T (p.Arg970Trp)
Allele change: Missense_R970W

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy

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.