Variant (rsID / SNP)

rs587779393

rs587779393 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,885,229. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYH7Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:23885229
Cytoband: 14q11.2
HGVS: NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro)
Allele change: Missense_L1646P

Associated conditions / phenotypes

MYH7-related skeletal myopathy|Hypertrophic 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.