Variant (rsID / SNP)

rs730880622

rs730880622 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,371,408. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYBPC3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:47371408
Cytoband: 11p11.2
HGVS: NM_000256.3(MYBPC3):c.571T>C (p.Trp191Arg)
Allele change: Missense_W191R

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.