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Variant (rsID / SNP)

rs200990647

FKRP

rs200990647 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKRP. Location: chromosome 19, position 47,259,227. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FKRPBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
19:47259227
Cytoband
19q13.32
HGVS
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys)
Allele change
Missense_S174C

Associated conditions / phenotypes

Walker-Warburg congenital muscular dystrophy|Cardiomyopathy|Hypertrophic cardiomyopathy|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.