Variant (rsID / SNP)

rs375607980

rs375607980 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,371,426. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MYBPC3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:47371426
Cytoband: 11p11.2
HGVS: NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter)
Allele change: Missense_K185Q

Associated conditions / phenotypes

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.