Variant (rsID / SNP)

rs202141819

rs202141819 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,900,812. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYH7Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:23900812
Cytoband: 14q11.2
HGVS: NM_000257.4(MYH7):c.714C>T (p.Asn238=)
Allele change: Synonymous_N238N

Associated conditions / phenotypes

Cardiovascular phenotype|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.