Variant (rsID / SNP)

rs397517244

rs397517244 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VCL. Location: chromosome 10, position 75,832,550. 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: 10:75832550
Cytoband: 10q22.2
HGVS: NM_014000.3(VCL):c.562C>T (p.Arg188Ter)
Allele change: Nonsense_R188X

Associated conditions / phenotypes

Primary dilated 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.