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Variant (rsID / SNP)

rs200928780

FLNC

rs200928780 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNC. Location: chromosome 7, position 128,486,106. 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
7:128486106
Cytoband
7q32.1
HGVS
NM_001458.5(FLNC):c.3853G>A (p.Gly1285Ser)
Allele change
Missense_G1285S

Associated conditions / phenotypes

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