Variant (rsID / SNP)

rs138130914

rs138130914 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK2. Location: chromosome 20, position 30,408,049. 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: 20:30408049
Cytoband: 20q11.21
HGVS: NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp)
Allele change: Missense_A58D

Associated conditions / phenotypes

Cardiomyopathy|Hypertrophic cardiomyopathy 1|Hypertrophic 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.