Variant (rsID / SNP)

rs117390537

rs117390537 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH2. Location: chromosome 17, position 10,436,860. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYH2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:10436860
Cytoband: 17p13.1
HGVS: NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)
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.