Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs17309806

FKTN

rs17309806 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKTN. Location: chromosome 9, position 108,380,355. Clinical significance in the table: Benign/Likely benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

FKTNBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
9:108380355
Cytoband
9q31.2
HGVS
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=)
Allele change
Synonymous_L210L

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Dilated cardiomyopathy 1X|Cardiovascular phenotype|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.