Variant (rsID / SNP)

rs267606905

rs267606905 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH6. Location: chromosome 14, position 23,857,123. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYH6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:23857123
Cytoband: 14q11.2
HGVS: NM_002471.4(MYH6):c.4369G>A (p.Glu1457Lys)
Allele change: Missense_E1457K

Associated conditions / phenotypes

Dilated cardiomyopathy 1EE|Hypertrophic cardiomyopathy 14|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.