Variant (rsID / SNP)

rs375774648

rs375774648 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,369,217. 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: 11:47369217
Cytoband: 11p11.2
HGVS: NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala)
Allele change: Missense_G279A

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|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.