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Variant (rsID / SNP)

rs199652368

FLNC

rs199652368 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNC. Location: chromosome 7, position 128,482,965. 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
7:128482965
Cytoband
7q32.1
HGVS
NM_001458.5(FLNC):c.2507C>A (p.Pro836Gln)
Allele change
Missense_P836Q

Associated conditions / phenotypes

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

Public references

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