Variant (rsID / SNP)

rs779637525

rs779637525 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK2. Location: chromosome 20, position 30,414,721. Clinical significance in the table: Likely benign.

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Reference-table entries

MYLK2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:30414721
Cytoband: 20q11.21
HGVS: NM_033118.4(MYLK2):c.1204G>T (p.Val402Phe)
Allele change: Missense_V402F

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 1

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.