Variant (rsID / SNP)
rs375014127
rs375014127 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANO5. Location: chromosome 11, position 22,283,708. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:22283708
- Cytoband
- 11p14.3
- HGVS
- NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)
- Allele change
- Missense_S554I
Associated conditions / phenotypes
Fatty replacement of skeletal muscle|Elevated circulating creatine kinase concentration|Distal muscle weakness|Myopathy|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L|Miyoshi muscular dystrophy 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.