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Variant (rsID / SNP)

rs104894205

CSRP3

rs104894205 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSRP3. Location: chromosome 11, position 19,209,833. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CSRP3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:19209833
Cytoband
11p15.1
HGVS
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)
Allele change
Missense_L44P

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 12|Cardiovascular phenotype|Dilated cardiomyopathy 1M|Hypertrophic cardiomyopathy 12|Hypertrophic cardiomyopathy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.