Variant (rsID / SNP)

rs193159707

rs193159707 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNC. Location: chromosome 7, position 128,489,475. Clinical significance in the table: Benign.

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Reference-table entries

FLNCBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:128489475
Cytoband: 7q32.1
HGVS: NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg)
Allele change: Missense_T1681R

Associated conditions / phenotypes

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