Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs117502839

MYLK2

rs117502839 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK2. Location: chromosome 20, position 30,407,387. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MYLK2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:30407387
Cytoband
20q11.21
HGVS
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr)
Allele change
Missense_A2T

Associated conditions / phenotypes

Long QT syndrome|Ventricular tachycardia|Cardiomyopathy|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.