Variant (rsID / SNP)
rs71579374
rs71579374 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VCL. Location: chromosome 10, position 75,860,740. 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
- 10:75860740
- Cytoband
- 10q22.2
- HGVS
- NM_014000.3(VCL):c.1907A>G (p.His636Arg)
- Allele change
- Missense_H636R
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Dilated cardiomyopathy 1W|Primary dilated cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
