Variant (rsID / SNP)

rs397516225

rs397516225 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,886,133. 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: 14:23886133
Cytoband: 14q11.2
HGVS: NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)
Allele change: Nonsense_R1530X

Associated conditions / phenotypes

Cardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy|MYH7-Related Disorders

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.