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Variant (rsID / SNP)

rs142027093

ANO5

rs142027093 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANO5. Location: chromosome 11, position 22,284,590. Clinical significance in the table: Pathogenic.

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Reference-table entries

ANO5Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:22284590
Cytoband
11p14.3
HGVS
NM_213599.3(ANO5):c.1898+1G>A
Allele change
Silent

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Miyoshi muscular dystrophy 3|Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.