Variant (rsID / SNP)

rs587777223

rs587777223 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKRP. Location: chromosome 19, position 47,258,708. 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: 19:47258708
Cytoband: 19q13.32
HGVS: NM_024301.5(FKRP):c.1A>G (p.Met1Val)
Allele change: Missense_M1V

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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