Variant (rsID / SNP)
rs17340492
rs17340492 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK2. Location: chromosome 20, position 30,414,503. Clinical significance in the table: Benign.
Reference-table entries
MYLK2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:30414503
- Cytoband
- 20q11.21
- HGVS
- NM_033118.4(MYLK2):c.1068C>T (p.Val356=)
- Allele change
- Synonymous_V356V
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 1|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.