Variant (rsID / SNP)

rs397516101

rs397516101 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,898,213. Clinical significance in the table: Pathogenic.

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Reference-table entries

MYH7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:23898213
Cytoband: 14q11.2
HGVS: NM_000257.4(MYH7):c.1358G>A (p.Arg453His)
Allele change: Missense_R453H

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy|Primary familial 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.