Variant (rsID / SNP)
rs387906587
rs387906587 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNC. Location: chromosome 7, position 128,475,604. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:128475604
- Cytoband
- 7q32.1
- HGVS
- NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)
- Allele change
- Missense_A193T
Associated conditions / phenotypes
Dilated Cardiomyopathy, Dominant|Myofibrillar myopathy 5|Hypertrophic cardiomyopathy 26|Distal myopathy with posterior leg and anterior hand involvement|Myofibrillar myopathy 5|Hypertrophic cardiomyopathy 26|Desmin-related myofibrillar myopathy|Distal myopathy with posterior leg and anterior hand involvement|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.