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Variant (rsID / SNP)

rs104894682

FKRP

rs104894682 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKRP. Location: chromosome 19, position 47,260,193. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

FKRPPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
19:47260193
Cytoband
19q13.32
HGVS
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)
Allele change
Missense_X496R

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2I|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy|Autosomal recessive limb-girdle muscular dystrophy

Public references

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