Variant (rsID / SNP)

rs397516254

rs397516254 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,883,018. 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: 14:23883018
Cytoband: 14q11.2
HGVS: NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)
Allele change: Missense_E1914K

Associated conditions / phenotypes

Primary dilated cardiomyopathy|MYH7-related skeletal myopathy|Dilated cardiomyopathy 1S|MYH7-related skeletal myopathy|Dilated cardiomyopathy 1S

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.