Variant (rsID / SNP)

rs119463994

rs119463994 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKTN. Location: chromosome 9, position 108,366,662. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

FKTNLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:108366662
Cytoband: 9q31.2
HGVS: NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr)
Allele change: Missense_R47T

Associated conditions / phenotypes

Dilated cardiomyopathy 1X

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.