Variant (rsID / SNP)
rs184018403
rs184018403 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNC. Location: chromosome 7, position 128,491,390. 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
- 7:128491390
- Cytoband
- 7q32.1
- HGVS
- NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)
- Allele change
- Missense_I1882V
Associated conditions / phenotypes
Myofibrillar myopathy 5|Distal myopathy with posterior leg and anterior hand involvement|Hypertrophic cardiomyopathy 26|Dilated Cardiomyopathy, Dominant
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.