Variant (rsID / SNP)
rs138218523
rs138218523 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSRP3. Location: chromosome 11, position 19,207,878. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CSRP3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:19207878
- Cytoband
- 11p15.1
- HGVS
- NM_003476.5(CSRP3):c.299G>A (p.Arg100His)
- Allele change
- Missense_R100H
Associated conditions / phenotypes
Hypertrophic cardiomyopathy|Cardiovascular phenotype|Dilated cardiomyopathy 1M|Hypertrophic cardiomyopathy 12|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.