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Variant (rsID / SNP)

rs10766930

ANO5

rs10766930 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANO5. Location: chromosome 11, position 22,301,807. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ANO5Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:22301807
Cytoband
11p14.3
HGVS
NM_213599.3(ANO5):c.*496A>G
Allele change
Silent

Associated conditions / phenotypes

Miyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|ANO5-Related Muscle Diseases|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.