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Variant (rsID / SNP)

rs143793528

FKRP

rs143793528 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKRP. Location: chromosome 19, position 47,259,048. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FKRPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:47259048
Cytoband
19q13.32
HGVS
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)
Allele change
Missense_A114G

Associated conditions / phenotypes

Walker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2I|Muscular dystrophy-dystroglycanopathy type B5|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.