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Variant (rsID / SNP)

rs119464998

FKTN

rs119464998 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKTN. Location: chromosome 9, position 108,382,282. 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
9:108382282
Cytoband
9q31.2
HGVS
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)
Allele change
Missense_Y239C

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy

Public references

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