Variant (rsID / SNP)

rs34935550

rs34935550 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH6. Location: chromosome 14, position 23,858,697. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYH6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:23858697
Cytoband: 14q11.2
HGVS: NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln)
Allele change: Missense_E1295Q

Associated conditions / phenotypes

Cardiovascular phenotype|Cardiomyopathy|Restrictive cardiomyopathy|Hypertrophic cardiomyopathy|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.