Variant (rsID / SNP)

rs200935123

rs200935123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNC. Location: chromosome 7, position 128,480,178. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FLNCUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:128480178
Cytoband: 7q32.1
HGVS: NM_001458.5(FLNC):c.1513G>A (p.Gly505Ser)
Allele change: Missense_G505S

Associated conditions / phenotypes

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

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.