Variant (rsID / SNP)

rs140126678

rs140126678 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOZ2. Location: chromosome 4, position 120,107,298. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYOZ2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:120107298
Cytoband: 4q26
HGVS: NM_016599.5(MYOZ2):c.738A>G (p.Ile246Met)
Allele change: Missense_I246M

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 16|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.