Variant (rsID / SNP)

rs149125238

rs149125238 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOZ2. Location: chromosome 4, position 120,072,195. 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: 4:120072195
Cytoband: 4q26
HGVS: NM_016599.5(MYOZ2):c.245A>C (p.Asn82Thr)
Allele change: Missense_N82T

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|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.