Variant (rsID / SNP)
rs141918432
rs141918432 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKTN. Location: chromosome 9, position 108,397,456. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FKTNConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:108397456
- Cytoband
- 9q31.2
- HGVS
- NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala)
- Allele change
- Missense_T301A
Associated conditions / phenotypes
Dilated cardiomyopathy 1X|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Cardiovascular phenotype|Ventricular tachycardia|Cardiomyopathy|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.