Variant (rsID / SNP)

rs144236975

rs144236975 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKRP. Location: chromosome 19, position 47,260,013. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FKRPUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:47260013
Cytoband: 19q13.32
HGVS: NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp)
Allele change: Missense_R436W

Associated conditions / phenotypes

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

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.