Variant (rsID / SNP)

rs367543052

rs367543052 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,884,685. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYH7Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Microsatellite
Chromosome / position: 14:23884685
Cytoband: 14q11.2
HGVS: NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del)

Associated conditions / phenotypes

Congenital myopathy with fiber type disproportion|MYH7-related skeletal myopathy|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.