Variant (rsID / SNP)
rs148545460
rs148545460 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNC. Location: chromosome 7, position 128,488,872. 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
- 7:128488872
- Cytoband
- 7q32.1
- HGVS
- NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly)
- Allele change
- Missense_A1588G
Associated conditions / phenotypes
Myofibrillar myopathy 5|Hypertrophic cardiomyopathy 26|Dilated Cardiomyopathy, Dominant|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.