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Variant (rsID / SNP)

rs201454433

FKRP

rs201454433 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKRP. Location: chromosome 19, position 47,259,274. 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
19:47259274
Cytoband
19q13.32
HGVS
NM_024301.5(FKRP):c.567C>T (p.Pro189=)
Allele change
Synonymous_P189P

Associated conditions / phenotypes

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

Public references

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