Variant (rsID / SNP)
rs182845462
rs182845462 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNC. Location: chromosome 7, position 128,480,620. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FLNCConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:128480620
- Cytoband
- 7q32.1
- HGVS
- NM_001458.5(FLNC):c.1568T>C (p.Val523Ala)
- Allele change
- Missense_V523A
Associated conditions / phenotypes
Dilated Cardiomyopathy, Dominant|Myofibrillar myopathy 5|Hypertrophic cardiomyopathy 26|Distal myopathy with posterior leg and anterior hand involvement
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.