Variant (rsID / SNP)

rs192725607

rs192725607 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNC. Location: chromosome 7, position 128,482,288. 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: 7:128482288
Cytoband: 7q32.1
HGVS: NM_001458.5(FLNC):c.2125G>A (p.Ala709Thr)
Allele change: Missense_A709T

Associated conditions / phenotypes

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

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.