Variant (rsID / SNP)

rs142586585

rs142586585 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH2. Location: chromosome 17, position 10,432,735. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYH2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:10432735
Cytoband: 17p13.1
HGVS: NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val)
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.