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Variant (rsID / SNP)

rs137854524

ANO5

rs137854524 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANO5. Location: chromosome 11, position 22,277,031. 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
11:22277031
Cytoband
11p14.3
HGVS
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly)
Allele change
Missense_A431G

Associated conditions / phenotypes

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

Public references

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