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Variant (rsID / SNP)

rs146951171

FKTN

rs146951171 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKTN. Location: chromosome 9, position 108,363,427. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FKTNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:108363427
Cytoband
9q31.2
HGVS
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)
Allele change
Silent

Associated conditions / phenotypes

Cardiovascular phenotype|Hypertrophic cardiomyopathy|Walker-Warburg congenital muscular dystrophy|Dilated cardiomyopathy 1X|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.