Variant (rsID / SNP)

rs267606814

rs267606814 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKTN. Location: chromosome 9, position 108,380,248. Clinical significance in the table: Pathogenic.

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Reference-table entries

FKTNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:108380248
Cytoband: 9q31.2
HGVS: NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)
Allele change: Nonsense_R175X

Associated conditions / phenotypes

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

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.