Variant (rsID / SNP)
rs746763506
rs746763506 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKTN. Location: chromosome 9, position 108,366,733. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:108366733
- Cytoband
- 9q31.2
- HGVS
- NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)
- Allele change
- Nonsense_R71X
Associated conditions / phenotypes
Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Autosomal recessive limb-girdle muscular dystrophy type 2M|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Dilated cardiomyopathy 1X
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.