Variant (rsID / SNP)
rs137852765
rs137852765 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSRP3. Location: chromosome 11, position 19,209,828. Clinical significance in the table: Uncertain significance.
Reference-table entries
CSRP3Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:19209828
- Cytoband
- 11p15.1
- HGVS
- NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg)
- Allele change
- Missense_S46R
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 12|Dilated cardiomyopathy 1M|Hypertrophic cardiomyopathy 12|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
