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Variant (rsID / SNP)

rs141033098

VCL

rs141033098 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VCL. Location: chromosome 10, position 75,855,425. Clinical significance in the table: Conflicting interpretations of pathogenicity.

Reference-table entries

VCLConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:75855425
Cytoband
10q22.2
HGVS
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)
Allele change
Missense_I519L

Associated conditions / phenotypes

Cardiomyopathy|Cardiovascular phenotype|Primary familial dilated cardiomyopathy|Ventricular tachycardia|Dilated cardiomyopathy 1W

Public references

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