Variant (rsID / SNP)

rs148407931

rs148407931 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH6. Location: chromosome 14, position 23,871,927. Clinical significance in the table: Likely benign.

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Reference-table entries

MYH6Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:23871927
Cytoband: 14q11.2
HGVS: NM_002471.4(MYH6):c.981C>T (p.Ser327=)
Allele change: Synonymous_S327S

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 14

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.