Variant (rsID / SNP)

rs118056738

rs118056738 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNC. Location: chromosome 7, position 128,480,139. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FLNCUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:128480139
Cytoband: 7q32.1
HGVS: NM_001458.5(FLNC):c.1474A>G (p.Lys492Glu)
Allele change: Missense_K492E

Associated conditions / phenotypes

Dilated Cardiomyopathy, Dominant|Myofibrillar myopathy 5|Hypertrophic cardiomyopathy 26|Distal myopathy with posterior leg and anterior hand involvement

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.