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Variant (rsID / SNP)

rs193922667

CSRP3

rs193922667 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSRP3. Location: chromosome 11, position 19,207,812. 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
11:19207812
Cytoband
11p15.1
HGVS
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln)
Allele change
Missense_R122Q

Associated conditions / phenotypes

Cardiomyopathy|Dilated cardiomyopathy 1M|Hypertrophic cardiomyopathy 12

Public references

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