Variant (rsID / SNP)

rs121908108

rs121908108 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK2. Location: chromosome 20, position 30,408,160. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYLK2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:30408160
Cytoband: 20q11.21
HGVS: NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu)
Allele change: Missense_A95E

Associated conditions / phenotypes

Cardiomyopathy, hypertrophic, midventricular, digenic|Hypertrophic cardiomyopathy 1|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.