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Variant (rsID / SNP)

rs137854523

ANO5

rs137854523 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANO5. Location: chromosome 11, position 22,257,752. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ANO5Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:22257752
Cytoband
11p14.3
HGVS
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
Allele change
Missense_G230V

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2L|ANO5-Related Disorders|Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Miyoshi muscular dystrophy 3|Hereditary fructosuria|Gnathodiaphyseal dysplasia

Public references

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