Variant (rsID / SNP)

rs202006788

rs202006788 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH2. Location: chromosome 17, position 10,427,114. 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: 17:10427114
Cytoband: 17p13.1
HGVS: NM_017534.6(MYH2):c.5263C>T (p.Arg1755Cys)
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.