Variant (rsID / SNP)
rs76757102
rs76757102 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOZ2. Location: chromosome 4, position 120,057,709. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
MYOZ2Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:120057709
- Cytoband
- 4q26
- HGVS
- NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro)
- Allele change
- Missense_Q10P
Associated conditions / phenotypes
Cardiovascular phenotype|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 16|Hypertrophic cardiomyopathy|Cardiomyopathy|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.