Variant (rsID / SNP)

rs189242810

rs189242810 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VCL. Location: chromosome 10, position 75,832,578. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

VCLConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:75832578
Cytoband: 10q22.2
HGVS: NM_014000.3(VCL):c.590C>T (p.Thr197Ile)
Allele change: Missense_T197I

Associated conditions / phenotypes

Cardiovascular phenotype|Cardiomyopathy|Dilated cardiomyopathy 1W

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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