Variant (rsID / SNP)
rs28937900
rs28937900 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKRP. Location: chromosome 19, position 47,259,533. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:47259533
- Cytoband
- 19q13.32
- HGVS
- NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
- Allele change
- Missense_L276I
Associated conditions / phenotypes
Autosomal recessive limb-girdle muscular dystrophy type 2I|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5|Muscular dystrophy-dystroglycanopathy type B5|Autosomal recessive limb-girdle muscular dystrophy type 2I|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Limb-girdle muscular dystrophy|8 conditions|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5|Muscular dystrophy-dystroglycanopathy type B5|Autosomal recessive limb-girdle muscular dystrophy type 2I|Muscular dystrophy-dystroglycanopathy type B5|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5|Myopathy|Autosomal recessive limb-girdle muscular dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.