Variant (rsID / SNP)
rs3729823
rs3729823 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,886,409. Clinical significance in the table: Benign.
Reference-table entries
MYH7Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:23886409
- Cytoband
- 14q11.2
- HGVS
- NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)
- Allele change
- Missense_S1491C
Associated conditions / phenotypes
Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Cardiovascular phenotype|Dilated cardiomyopathy 1S|Cardiomyopathy|Restrictive cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.