Variant (rsID / SNP)

rs606231318

rs606231318 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,899,021. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYH7Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:23899021
Cytoband: 14q11.2
HGVS: NM_000257.4(MYH7):c.1101G>T (p.Lys367Asn)
Allele change: Missense_K367N

Associated conditions / phenotypes

Familial 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.