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Variant (rsID / SNP)

rs104894681

FKRP

rs104894681 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKRP. Location: chromosome 19, position 47,260,050. 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
19:47260050
Cytoband
19q13.32
HGVS
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)
Allele change
Missense_P448L

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5|Muscular dystrophy-dystroglycanopathy type B5|Autosomal recessive limb-girdle muscular dystrophy type 2I|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5

Public references

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