Variant (rsID / SNP)
rs45476991
rs45476991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSRP3. Location: chromosome 11, position 19,209,751. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
CSRP3Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:19209751
- Cytoband
- 11p15.1
- HGVS
- NM_003476.5(CSRP3):c.213C>T (p.Ile71=)
- Allele change
- Synonymous_I71I
Associated conditions / phenotypes
Dilated cardiomyopathy 1M|Hypertrophic cardiomyopathy 12|Cardiovascular phenotype|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.
