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Variant (rsID / SNP)

rs121908110

FKRP

rs121908110 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKRP. Location: chromosome 19, position 47,260,094. Clinical significance in the table: Pathogenic.

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Reference-table entries

FKRPPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
19:47260094
Cytoband
19q13.32
HGVS
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)
Allele change
Missense_N463D

Associated conditions / phenotypes

Muscular dystrophy|Walker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2I|Muscular dystrophy-dystroglycanopathy type B5|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.