Variant (rsID / SNP)

rs34972246

rs34972246 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNC. Location: chromosome 7, position 128,481,578. 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: 7:128481578
Cytoband: 7q32.1
HGVS: NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala)
Allele change: Missense_D693A

Associated conditions / phenotypes

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