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Variant (rsID / SNP)

rs180834558

FLNC

rs180834558 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNC. Location: chromosome 7, position 128,497,224. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FLNCBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
7:128497224
Cytoband
7q32.1
HGVS
NM_001458.5(FLNC):c.7614G>T (p.Leu2538Phe)
Allele change
Missense_L2538F

Associated conditions / phenotypes

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

Public references

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