Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs181067717

FLNC

rs181067717 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNC. Location: chromosome 7, position 128,491,324. Clinical significance in the table: Benign/Likely benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

FLNCBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
7:128491324
Cytoband
7q32.1
HGVS
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys)
Allele change
Missense_R1860C

Associated conditions / phenotypes

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

Public references

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