Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200342284

VCL

rs200342284 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VCL. Location: chromosome 10, position 75,849,088. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

VCLConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:75849088
Cytoband
10q22.2
HGVS
NM_014000.3(VCL):c.1157A>G (p.Lys386Arg)
Allele change
Missense_K386R

Associated conditions / phenotypes

Dilated cardiomyopathy 1W|Cardiomyopathy|Primary dilated cardiomyopathy

Public references

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