Variant (rsID / SNP)
rs34787999
rs34787999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKTN. Location: chromosome 9, position 108,366,734. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:108366734
- Cytoband
- 9q31.2
- HGVS
- NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)
- Allele change
- Missense_R71Q
Associated conditions / phenotypes
Dilated cardiomyopathy 1X|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|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|Cardiovascular phenotype|Walker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2M|Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.