Variant (rsID / SNP)

rs192163925

rs192163925 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNC. Location: chromosome 7, position 128,478,800. Clinical significance in the table: Likely benign.

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Reference-table entries

FLNCLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:128478800
Cytoband: 7q32.1
HGVS: NM_001458.5(FLNC):c.1354G>A (p.Val452Met)
Allele change: Missense_V452M

Associated conditions / phenotypes

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

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.