Variant (rsID / SNP)

rs397516142

rs397516142 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,894,566. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MYH7Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:23894566
Cytoband: 14q11.2
HGVS: NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro)
Allele change: Missense_R783P

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Primary familial hypertrophic cardiomyopathy|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.