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Variant (rsID / SNP)

rs193922712

MYLK2

rs193922712 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK2. Location: chromosome 20, position 30,409,363. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYLK2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:30409363
Cytoband
20q11.21
HGVS
NM_033118.4(MYLK2):c.595A>G (p.Ile199Val)
Allele change
Missense_I199V

Associated conditions / phenotypes

Cardiomyopathy|Hypertrophic cardiomyopathy 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.