Variant (rsID / SNP)

rs34006675

rs34006675 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKTN. Location: chromosome 9, position 108,366,499. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FKTNBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:108366499
Cytoband: 9q31.2
HGVS: NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)
Allele change: Silent

Associated conditions / phenotypes

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

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.