Variant (rsID / SNP)

rs121913654

rs121913654 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,884,385. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MYH7Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:23884385
Cytoband: 14q11.2
HGVS: NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro)
Allele change: Missense_L1793P

Associated conditions / phenotypes

Myosin storage myopathy|Left ventricular noncompaction 5|Hypertrophic cardiomyopathy 1|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.