Variant (rsID / SNP)

rs45497293

rs45497293 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,903,430. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYH7Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:23903430
Cytoband: 14q11.2
HGVS: NM_000257.4(MYH7):c.-36C>T
Allele change: Silent

Associated conditions / phenotypes

Myosin storage myopathy|Left ventricular noncompaction cardiomyopathy|Dilated Cardiomyopathy, Dominant|Hypertrophic cardiomyopathy 1|MYH7-related skeletal myopathy

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.