Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs140679502

FKRP

rs140679502 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKRP. Location: chromosome 19, position 47,259,884. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

FKRPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:47259884
Cytoband
19q13.32
HGVS
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)
Allele change
Missense_V393I

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.