Variant (rsID / SNP)

rs201040489

rs201040489 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH2. Location: chromosome 17, position 10,442,604. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYH2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:10442604
Cytoband: 17p13.1
HGVS: NM_017534.6(MYH2):c.1334G>T (p.Arg445Leu)
Allele change: Silent

Associated conditions / phenotypes

Myopathy, proximal, and ophthalmoplegia

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.